Canonical Allele Identifier: CA047781
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 392196
dbSNP Id: rs539821357

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546425C>A , CM000680.2:g.31546425C>A GRCh38
NC_000018.9:g.29126388C>A , CM000680.1:g.29126388C>A GRCh37
NC_000018.8:g.27380386C>A NCBI36
NG_007072.3:g.53184C>A , LRG_397:g.53184C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3039C>A (DSG2) MANE Select ENSP00000261590.8:p.Tyr1013Ter
ENST00000261590.12:c.3039C>A ENSP00000261590.8:p.Tyr1013Ter
NM_001943.3:c.3039C>A , LRG_397t1:c.3039C>A (DSG2) NP_001934.2:p.Tyr1013Ter
NR_045216.1:n.1346-519G>T (DSG2-AS1)
NM_001943.4:c.3039C>A (DSG2) NP_001934.2:p.Tyr1013Ter
XM_024451095.1:c.2505C>A (DSG2) XP_024306863.1:p.Tyr835Ter
NM_001943.5:c.3039C>A (DSG2) MANE Select NP_001934.2:p.Tyr1013Ter