Canonical Allele Identifier: CA046579
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016428
dbSNP Id: rs553730922

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545983C>T , CM000680.2:g.31545983C>T GRCh38
NC_000018.9:g.29125946C>T , CM000680.1:g.29125946C>T GRCh37
NC_000018.8:g.27379944C>T NCBI36
NG_007072.3:g.52742C>T , LRG_397:g.52742C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2597C>T (DSG2) MANE Select ENSP00000261590.8:p.Ala866Val
ENST00000261590.12:c.2597C>T (DSG2) ENSP00000261590.8:p.Ala866Val
NM_001943.3:c.2597C>T , LRG_397t1:c.2597C>T (DSG2) NP_001934.2:p.Ala866Val
NR_045216.1:n.1346-77G>A (DSG2-AS1)
NM_001943.4:c.2597C>T (DSG2) NP_001934.2:p.Ala866Val
XM_024451095.1:c.2063C>T (DSG2) XP_024306863.1:p.Ala688Val
NM_001943.5:c.2597C>T (DSG2) MANE Select NP_001934.2:p.Ala866Val