HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_001025161.2:c.622del
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_001020332.2:p.(Arg208GlyfsTer2)
Predicted effect on protein (:p.) NP_001020332.2:p.(R208Gfs*2)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000022.10:g.42524244del GRCh37:22:42524243:CT:C
NC_000022.11:g.42128242del GRCh38:22:42128241:CT:C
NT_187682.1:g.50583del GRCh38:HSCHR22_3_CTG1:50582:CT:C
NW_004504305.1:g.50569del GRCh37:HSCHR22_2_CTG1:50568:CT:C, GRCh38:HSCHR22_2_CTG1:50568:CT:C
NW_009646208.1:g.13808del GRCh38:HSCHR22_5_CTG1:13807:CT:C
NW_014040931.1:g.21831del GRCh38:HSCHR22_7_CTG1:21830:CT:C
NW_015148968.1:g.5983del GRCh38:HSCHR22_8_CTG1:5982:CT:C

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene RefSeqGene record not available
Chromosomal GRCh38 NC_000022.11:g.42128242del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_001025161.2:c.622del

Unable to provide variant descriptions with respect to the RefSeqGene sequence because:

  • No RefSeqGene has been created for the CYP2D6 gene;
  • Or, Transcript NM_001025161.2 has not been annotated in the RefSeqGene record for the CYP2D6 gene

Transcript-level variants overlapping genome coordinates NC_000022.11:42128242


Genomic coordinates (VCF) with respect to genome build GRCh38

22-42128241-CT-C


Aggregated data sources and clinical significance

VariantValidator

Select Genome Build
Alignment method: