Canonical Allele Identifier: CA042967

Gene: DSG2

Linked Data

• ClinVar Variation Id: 421691
• ClinVar RCV Id: RCV000485939 ; RCV000821976 ; RCV002402407 ; RCV002506171 ; RCV003532142
• dbSNP Id: rs368718022
• ExAC: 18:29116346 C / A
• gnomAD v2: 18-29116346-C-A
• gnomAD v3: 18-31536383-C-A
• gnomAD v4: 18-31536383-C-A
• MyVariant Identifiers: chr18:g.29116346C>A (hg19) ; chr18:g.31536383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31536383C>A , CM000680.2:g.31536383C>A	GRCh38
NC_000018.9:g.29116346C>A , CM000680.1:g.29116346C>A	GRCh37
NC_000018.8:g.27370344C>A	NCBI36
NG_007072.3:g.43142C>A , LRG_397:g.43142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1605C>A MANE Select	ENSP00000261590.8:p.Asp535Glu
ENST00000261590.12:c.1605C>A	ENSP00000261590.8:p.Asp535Glu
NM_001943.3:c.1605C>A , LRG_397t1:c.1605C>A	NP_001934.2:p.Asp535Glu
NM_001943.4:c.1605C>A	NP_001934.2:p.Asp535Glu
XM_024451095.1:c.1071C>A	XP_024306863.1:p.Asp357Glu
NM_001943.5:c.1605C>A MANE Select	NP_001934.2:p.Asp535Glu