Canonical Allele Identifier: CA2641412742

Gene: DSG2

Linked Data

• gnomAD v4: 18-31521248-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521248G>T , CM000680.2:g.31521248G>T	GRCh38
NC_000018.9:g.29101211G>T , CM000680.1:g.29101211G>T	GRCh37
NC_000018.8:g.27355209G>T	NCBI36
NG_007072.3:g.28007G>T , LRG_397:g.28007G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.354+5G>T
ENST00000682241.2:c.523+5G>T	ENSP00000507600.2:n.523+5G>T
ENST00000683614.2:n.354+5G>T
ENST00000682087.1:c.354+5G>T
ENST00000682241.1:c.354+5G>T
ENST00000683614.1:c.354+5G>T
ENST00000683654.1:c.523+5G>T	ENSP00000506971.1:n.523+5G>T
ENST00000684461.1:n.359G>T
ENST00000261590.13:c.523+5G>T MANE Select	ENSP00000261590.8:n.523+5G>T
ENST00000261590.12:c.523+5G>T	ENSP00000261590.8:n.523+5G>T
ENST00000585206.1:c.523+5G>T	ENSP00000462503.1:n.523+5G>T
NM_001943.3:c.523+5G>T , LRG_397t1:c.523+5G>T	NP_001934.2:n.523+5G>T
NM_001943.4:c.523+5G>T	NP_001934.2:n.523+5G>T
XM_024451095.1:c.-12+5G>T	XP_024306863.1:n.-12+5G>T
NM_001943.5:c.523+5G>T MANE Select	NP_001934.2:n.523+5G>T