Canonical Allele Identifier: CA402139820
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541291G>A , CM000680.2:g.31541291G>A GRCh38
NC_000018.9:g.29121254G>A , CM000680.1:g.29121254G>A GRCh37
NC_000018.8:g.27375252G>A NCBI36
NG_007072.3:g.48050G>A , LRG_397:g.48050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1978G>A MANE Select ENSP00000261590.8:p.Glu660Lys
ENST00000261590.12:c.1978G>A ENSP00000261590.8:p.Glu660Lys
NM_001943.3:c.1978G>A , LRG_397t1:c.1978G>A NP_001934.2:p.Glu660Lys
NM_001943.4:c.1978G>A NP_001934.2:p.Glu660Lys
XM_024451095.1:c.1444G>A XP_024306863.1:p.Glu482Lys
NM_001943.5:c.1978G>A MANE Select NP_001934.2:p.Glu660Lys