Canonical Allele Identifier: CA2641406214

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2912461
• ClinVar RCV Id: RCV003632822
• gnomAD v4: 18-31524603-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524605_31524606del , CM000680.2:g.31524605_31524606del	GRCh38
NC_000018.9:g.29104568_29104569del , CM000680.1:g.29104568_29104569del	GRCh37
NC_000018.8:g.27358566_27358567del	NCBI36
NG_007072.3:g.31364_31365del , LRG_397:g.31364_31365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.659+20_659+21del
ENST00000683614.2:n.659+20_659+21del
ENST00000682087.1:c.659+20_659+21del
ENST00000683614.1:c.659+20_659+21del
ENST00000261590.13:c.828+20_828+21del MANE Select	ENSP00000261590.8:n.828+20_828+21del
ENST00000261590.12:c.828+20_828+21del	ENSP00000261590.8:n.828+20_828+21del
NM_001943.3:c.828+20_828+21del , LRG_397t1:c.828+20_828+21del	NP_001934.2:n.828+20_828+21del
NM_001943.4:c.828+20_828+21del	NP_001934.2:n.828+20_828+21del
XM_024451095.1:c.294+20_294+21del	XP_024306863.1:n.294+20_294+21del
NM_001943.5:c.828+20_828+21del MANE Select	NP_001934.2:n.828+20_828+21del