Canonical Allele Identifier: CA047523
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332669
dbSNP Id: rs781744343

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546330G>A , CM000680.2:g.31546330G>A GRCh38
NC_000018.9:g.29126293G>A , CM000680.1:g.29126293G>A GRCh37
NC_000018.8:g.27380291G>A NCBI36
NG_007072.3:g.53089G>A , LRG_397:g.53089G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2944G>A (DSG2) MANE Select ENSP00000261590.8:p.Glu982Lys
ENST00000261590.12:c.2944G>A (DSG2) ENSP00000261590.8:p.Glu982Lys
NM_001943.3:c.2944G>A , LRG_397t1:c.2944G>A (DSG2) NP_001934.2:p.Glu982Lys
NR_045216.1:n.1346-424C>T (DSG2-AS1)
NM_001943.4:c.2944G>A (DSG2) NP_001934.2:p.Glu982Lys
XM_024451095.1:c.2410G>A (DSG2) XP_024306863.1:p.Glu804Lys
NM_001943.5:c.2944G>A (DSG2) MANE Select NP_001934.2:p.Glu982Lys