Canonical Allele Identifier: CA022354
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16811
dbSNP Id: rs121913007

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524792G>A , CM000680.2:g.31524792G>A GRCh38
NC_000018.9:g.29104755G>A , CM000680.1:g.29104755G>A GRCh37
NC_000018.8:g.27358753G>A NCBI36
NG_007072.3:g.31551G>A , LRG_397:g.31551G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.749G>A
ENST00000683614.2:n.749G>A
ENST00000682087.1:c.749G>A
ENST00000683614.1:c.749G>A
ENST00000261590.13:c.918G>A MANE Select ENSP00000261590.8:p.Trp306Ter
ENST00000261590.12:c.918G>A ENSP00000261590.8:p.Trp306Ter
NM_001943.3:c.918G>A , LRG_397t1:c.918G>A NP_001934.2:p.Trp306Ter
NM_001943.4:c.918G>A NP_001934.2:p.Trp306Ter
XM_024451095.1:c.384G>A XP_024306863.1:p.Trp128Ter
NM_001943.5:c.918G>A MANE Select NP_001934.2:p.Trp306Ter