Canonical Allele Identifier: CA402141398

Gene: DSG2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31536259A>T , CM000680.2:g.31536259A>T	GRCh38
NC_000018.9:g.29116222A>T , CM000680.1:g.29116222A>T	GRCh37
NC_000018.8:g.27370220A>T	NCBI36
NG_007072.3:g.43018A>T , LRG_397:g.43018A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001943.5:c.1481A>T MANE Select	NP_001934.2:p.Asp494Val
ENST00000261590.13:c.1481A>T MANE Select	ENSP00000261590.8:p.Asp494Val
NM_001943.3:c.1481A>T , LRG_397t1:c.1481A>T	NP_001934.2:p.Asp494Val
NM_001943.4:c.1481A>T	NP_001934.2:p.Asp494Val
ENST00000261590.12:c.1481A>T	ENSP00000261590.8:p.Asp494Val
XM_024451095.1:c.947A>T	XP_024306863.1:p.Asp316Val