Canonical Allele Identifier: CA022136

Gene: DSG2

Linked Data

• ClinVar Variation Id: 188446
• ClinVar RCV Id: RCV000695986 ; RCV001179059 ; RCV001582662
• dbSNP Id: rs553299589
• gnomAD v2: 18-29101207-G-A
• gnomAD v3: 18-31521244-G-A
• gnomAD v4: 18-31521244-G-A
• MyVariant Identifiers: chr18:g.29101207G>A (hg19) ; chr18:g.31521244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521244G>A , CM000680.2:g.31521244G>A	GRCh38
NC_000018.9:g.29101207G>A , CM000680.1:g.29101207G>A	GRCh37
NC_000018.8:g.27355205G>A	NCBI36
NG_007072.3:g.28003G>A , LRG_397:g.28003G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.354+1G>A
ENST00000682241.2:c.523+1G>A	ENSP00000507600.2:n.523+1G>A
ENST00000683614.2:n.354+1G>A
ENST00000682087.1:c.354+1G>A
ENST00000682241.1:c.354+1G>A
ENST00000683614.1:c.354+1G>A
ENST00000683654.1:c.523+1G>A	ENSP00000506971.1:n.523+1G>A
ENST00000684461.1:n.355G>A
ENST00000261590.13:c.523+1G>A MANE Select	ENSP00000261590.8:n.523+1G>A
ENST00000261590.12:c.523+1G>A	ENSP00000261590.8:n.523+1G>A
ENST00000585206.1:c.523+1G>A	ENSP00000462503.1:n.523+1G>A
NM_001943.3:c.523+1G>A , LRG_397t1:c.523+1G>A	NP_001934.2:n.523+1G>A
NM_001943.4:c.523+1G>A	NP_001934.2:n.523+1G>A
XM_024451095.1:c.-12+1G>A	XP_024306863.1:n.-12+1G>A
NM_001943.5:c.523+1G>A MANE Select	NP_001934.2:n.523+1G>A