Canonical Allele Identifier: CA2576480551
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31541337T>A , CM000680.2:g.31541337T>A GRCh38
NC_000018.9:g.29121300T>A , CM000680.1:g.29121300T>A GRCh37
NC_000018.8:g.27375298T>A NCBI36
NG_007072.3:g.48096T>A , LRG_397:g.48096T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2001+23T>A MANE Select ENSP00000261590.8:n.2001+23T>A
ENST00000261590.12:c.2001+23T>A ENSP00000261590.8:n.2001+23T>A
NM_001943.3:c.2001+23T>A , LRG_397t1:c.2001+23T>A NP_001934.2:n.2001+23T>A
NM_001943.4:c.2001+23T>A NP_001934.2:n.2001+23T>A
XM_024451095.1:c.1467+23T>A XP_024306863.1:n.1467+23T>A
NM_001943.5:c.2001+23T>A MANE Select NP_001934.2:n.2001+23T>A