Canonical Allele Identifier: CA503765728
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31531037T>C , CM000680.2:g.31531037T>C GRCh38
NC_000018.9:g.29111000T>C , CM000680.1:g.29111000T>C GRCh37
NC_000018.8:g.27364998T>C NCBI36
NG_007072.3:g.37796T>C , LRG_397:g.37796T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000683614.2:n.896T>C
ENST00000683614.1:c.896T>C
ENST00000261590.13:c.1065T>C MANE Select ENSP00000261590.8:p.Ala355=
ENST00000261590.12:c.1065T>C ENSP00000261590.8:p.Ala355=
NM_001943.3:c.1065T>C , LRG_397t1:c.1065T>C NP_001934.2:p.Ala355=
NM_001943.4:c.1065T>C NP_001934.2:p.Ala355=
XM_024451095.1:c.531T>C XP_024306863.1:p.Ala177=
NM_001943.5:c.1065T>C MANE Select NP_001934.2:p.Ala355=