Canonical Allele Identifier: CA021956
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 44309
dbSNP Id: rs200830807

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546426G>A , CM000680.2:g.31546426G>A GRCh38
NC_000018.9:g.29126389G>A , CM000680.1:g.29126389G>A GRCh37
NC_000018.8:g.27380387G>A NCBI36
NG_007072.3:g.53185G>A , LRG_397:g.53185G>A

Transcript Alleles

HGVS Amino-acid change
NM_001943.3:c.3040G>A , LRG_397t1:c.3040G>A (DSG2) NP_001934.2:p.Val1014Ile
NR_045216.1:n.1346-520C>T (DSG2-AS1)
NM_001943.4:c.3040G>A (DSG2) VV NP_001934.2:p.Val1014Ile
XM_024451095.1:c.2506G>A (DSG2) XP_024306863.1:p.Val836Ile
NM_001943.5:c.3040G>A (DSG2) VV NP_001934.2:p.Val1014Ile
ENST00000261590.12:c.3040G>A ENSP00000261590.8:p.Val1014Ile