Canonical Allele Identifier: CA402141272
Gene: DSG2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536232T>A , CM000680.2:g.31536232T>A GRCh38
NC_000018.9:g.29116195T>A , CM000680.1:g.29116195T>A GRCh37
NC_000018.8:g.27370193T>A NCBI36
NG_007072.3:g.42991T>A , LRG_397:g.42991T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1454T>A MANE Select ENSP00000261590.8:p.Val485Asp
ENST00000261590.12:c.1454T>A ENSP00000261590.8:p.Val485Asp
NM_001943.3:c.1454T>A , LRG_397t1:c.1454T>A NP_001934.2:p.Val485Asp
NM_001943.4:c.1454T>A NP_001934.2:p.Val485Asp
XM_024451095.1:c.920T>A XP_024306863.1:p.Val307Asp
NM_001943.5:c.1454T>A MANE Select NP_001934.2:p.Val485Asp