Canonical Allele Identifier: CA045031
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 326483
dbSNP Id: rs756912703

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542680A>G , CM000680.2:g.31542680A>G GRCh38
NC_000018.9:g.29122643A>G , CM000680.1:g.29122643A>G GRCh37
NC_000018.8:g.27376641A>G NCBI36
NG_007072.3:g.49439A>G , LRG_397:g.49439A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2162A>G (DSG2) MANE Select ENSP00000261590.8:p.His721Arg
ENST00000261590.12:c.2162A>G (DSG2) ENSP00000261590.8:p.His721Arg
NM_001943.3:c.2162A>G , LRG_397t1:c.2162A>G (DSG2) NP_001934.2:p.His721Arg
NR_045216.1:n.1811-359T>C (DSG2-AS1)
NM_001943.4:c.2162A>G (DSG2) NP_001934.2:p.His721Arg
XM_024451095.1:c.1628A>G (DSG2) XP_024306863.1:p.His543Arg
NM_001943.5:c.2162A>G (DSG2) MANE Select NP_001934.2:p.His721Arg