Canonical Allele Identifier: CA2641405943

Gene: DSG2

Linked Data

• gnomAD v4: 18-31522271-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522271C>A , CM000680.2:g.31522271C>A	GRCh38
NC_000018.9:g.29102234C>A , CM000680.1:g.29102234C>A	GRCh37
NC_000018.8:g.27356232C>A	NCBI36
NG_007072.3:g.29030C>A , LRG_397:g.29030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.521+22C>A
ENST00000682241.2:c.690+22C>A	ENSP00000507600.2:n.690+22C>A
ENST00000683614.2:n.521+22C>A
ENST00000682087.1:c.521+22C>A
ENST00000682241.1:c.521+22C>A
ENST00000683614.1:c.521+22C>A
ENST00000683654.1:c.690+22C>A	ENSP00000506971.1:n.690+22C>A
ENST00000684461.1:n.1382C>A
ENST00000261590.13:c.690+22C>A MANE Select	ENSP00000261590.8:n.690+22C>A
ENST00000261590.12:c.690+22C>A	ENSP00000261590.8:n.690+22C>A
ENST00000585206.1:c.*13C>A	ENSP00000462503.1:n.*13C>A
NM_001943.3:c.690+22C>A , LRG_397t1:c.690+22C>A	NP_001934.2:n.690+22C>A
NM_001943.4:c.690+22C>A	NP_001934.2:n.690+22C>A
XM_024451095.1:c.156+22C>A	XP_024306863.1:n.156+22C>A
NM_001943.5:c.690+22C>A MANE Select	NP_001934.2:n.690+22C>A