Canonical Allele Identifier: CA402135377
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs2073150906

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524707A>T , CM000680.2:g.31524707A>T GRCh38
NC_000018.9:g.29104670A>T , CM000680.1:g.29104670A>T GRCh37
NC_000018.8:g.27358668A>T NCBI36
NG_007072.3:g.31466A>T , LRG_397:g.31466A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.664A>T
ENST00000683614.2:n.664A>T
ENST00000682087.1:c.664A>T
ENST00000683614.1:c.664A>T
ENST00000261590.13:c.833A>T MANE Select ENSP00000261590.8:p.Glu278Val
ENST00000261590.12:c.833A>T ENSP00000261590.8:p.Glu278Val
NM_001943.3:c.833A>T , LRG_397t1:c.833A>T NP_001934.2:p.Glu278Val
NM_001943.4:c.833A>T NP_001934.2:p.Glu278Val
XM_024451095.1:c.299A>T XP_024306863.1:p.Glu100Val
NM_001943.5:c.833A>T MANE Select NP_001934.2:p.Glu278Val