Canonical Allele Identifier: CA402141764
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536330G>A , CM000680.2:g.31536330G>A GRCh38
NC_000018.9:g.29116293G>A , CM000680.1:g.29116293G>A GRCh37
NC_000018.8:g.27370291G>A NCBI36
NG_007072.3:g.43089G>A , LRG_397:g.43089G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1552G>A MANE Select ENSP00000261590.8:p.Glu518Lys
ENST00000261590.12:c.1552G>A ENSP00000261590.8:p.Glu518Lys
NM_001943.3:c.1552G>A , LRG_397t1:c.1552G>A NP_001934.2:p.Glu518Lys
NM_001943.4:c.1552G>A NP_001934.2:p.Glu518Lys
XM_024451095.1:c.1018G>A XP_024306863.1:p.Glu340Lys
NM_001943.5:c.1552G>A MANE Select NP_001934.2:p.Glu518Lys