Canonical Allele Identifier: CA503765867
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29111126T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531163T>A , CM000680.2:g.31531163T>A GRCh38
NC_000018.9:g.29111126T>A , CM000680.1:g.29111126T>A GRCh37
NC_000018.8:g.27365124T>A NCBI36
NG_007072.3:g.37922T>A , LRG_397:g.37922T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.1022T>A
ENST00000683614.1:c.1022T>A
ENST00000261590.13:c.1191T>A MANE Select ENSP00000261590.8:p.Val397=
ENST00000261590.12:c.1191T>A ENSP00000261590.8:p.Val397=
NM_001943.3:c.1191T>A , LRG_397t1:c.1191T>A NP_001934.2:p.Val397=
NM_001943.4:c.1191T>A NP_001934.2:p.Val397=
XM_024451095.1:c.657T>A XP_024306863.1:p.Val219=
NM_001943.5:c.1191T>A MANE Select NP_001934.2:p.Val397=