Canonical Allele Identifier: CA022199
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44324
dbSNP Id: rs374875442

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522140C>T , CM000680.2:g.31522140C>T GRCh38
NC_000018.9:g.29102103C>T , CM000680.1:g.29102103C>T GRCh37
NC_000018.8:g.27356101C>T NCBI36
NG_007072.3:g.28899C>T , LRG_397:g.28899C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.581C>T MANE Select ENSP00000261590.8:p.Ser194Leu
ENST00000261590.12:c.581C>T ENSP00000261590.8:p.Ser194Leu
ENST00000585206.1:c.581C>T ENSP00000462503.1:p.Ser194Leu
NM_001943.3:c.581C>T , LRG_397t1:c.581C>T NP_001934.2:p.Ser194Leu
NM_001943.4:c.581C>T NP_001934.2:p.Ser194Leu
XM_024451095.1:c.47C>T XP_024306863.1:p.Ser16Leu
NM_001943.5:c.581C>T MANE Select NP_001934.2:p.Ser194Leu