Canonical Allele Identifier: CA402139912
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541304C>A , CM000680.2:g.31541304C>A GRCh38
NC_000018.9:g.29121267C>A , CM000680.1:g.29121267C>A GRCh37
NC_000018.8:g.27375265C>A NCBI36
NG_007072.3:g.48063C>A , LRG_397:g.48063C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1991C>A MANE Select ENSP00000261590.8:p.Pro664His
ENST00000261590.12:c.1991C>A ENSP00000261590.8:p.Pro664His
NM_001943.3:c.1991C>A , LRG_397t1:c.1991C>A NP_001934.2:p.Pro664His
NM_001943.4:c.1991C>A NP_001934.2:p.Pro664His
XM_024451095.1:c.1457C>A XP_024306863.1:p.Pro486His
NM_001943.5:c.1991C>A MANE Select NP_001934.2:p.Pro664His