Canonical Allele Identifier: CA16608729

Gene: DSG2

Linked Data

• ClinVar Variation Id: 379135
• ClinVar RCV Id: RCV001703544
• dbSNP Id: rs376424003
• gnomAD v2: 18-29104662-G-A
• gnomAD v3: 18-31524699-G-A
• gnomAD v4: 18-31524699-G-A
• MyVariant Identifiers: chr18:g.29104662G>A (hg19) ; chr18:g.31524699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524699G>A , CM000680.2:g.31524699G>A	GRCh38
NC_000018.9:g.29104662G>A , CM000680.1:g.29104662G>A	GRCh37
NC_000018.8:g.27358660G>A	NCBI36
NG_007072.3:g.31458G>A , LRG_397:g.31458G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.660-4G>A
ENST00000683614.2:n.660-4G>A
ENST00000682087.1:c.660-4G>A
ENST00000683614.1:c.660-4G>A
ENST00000261590.13:c.829-4G>A MANE Select	ENSP00000261590.8:n.829-4G>A
ENST00000261590.12:c.829-4G>A	ENSP00000261590.8:n.829-4G>A
NM_001943.3:c.829-4G>A , LRG_397t1:c.829-4G>A	NP_001934.2:n.829-4G>A
NM_001943.4:c.829-4G>A	NP_001934.2:n.829-4G>A
XM_024451095.1:c.295-4G>A	XP_024306863.1:n.295-4G>A
NM_001943.5:c.829-4G>A MANE Select	NP_001934.2:n.829-4G>A