Canonical Allele Identifier: CA10641363
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 326480
ClinVar RCV Id: RCV000384991
dbSNP Id: rs773812422

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31538857T>C , CM000680.2:g.31538857T>C GRCh38
NC_000018.9:g.29118820T>C , CM000680.1:g.29118820T>C GRCh37
NC_000018.8:g.27372818T>C NCBI36
NG_007072.3:g.45616T>C , LRG_397:g.45616T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1758T>C MANE Select ENSP00000261590.8:p.Leu586=
ENST00000261590.12:c.1758T>C ENSP00000261590.8:p.Leu586=
NM_001943.3:c.1758T>C , LRG_397t1:c.1758T>C NP_001934.2:p.Leu586=
NM_001943.4:c.1758T>C NP_001934.2:p.Leu586=
XM_024451095.1:c.1224T>C XP_024306863.1:p.Leu408=
NM_001943.5:c.1758T>C MANE Select NP_001934.2:p.Leu586=