Canonical Allele Identifier: CA021434

Gene: DSG2

Linked Data

• ClinVar Variation Id: 16813
• ClinVar RCV Id: RCV000018306 ; RCV001178344 ; RCV001588816 ; RCV002476988 ; RCV002390115 ; RCV003996107
• dbSNP Id: rs121913009
• gnomAD v2: 18-29116261-G-A
• gnomAD v3: 18-31536298-G-A
• gnomAD v4: 18-31536298-G-A
• MyVariant Identifiers: chr18:g.29116261G>A (hg19) ; chr18:g.31536298G>A (hg38)
• PubMed: PMID:16773573

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31536298G>A , CM000680.2:g.31536298G>A	GRCh38
NC_000018.9:g.29116261G>A , CM000680.1:g.29116261G>A	GRCh37
NC_000018.8:g.27370259G>A	NCBI36
NG_007072.3:g.43057G>A , LRG_397:g.43057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1520G>A MANE Select	ENSP00000261590.8:p.Cys507Tyr
ENST00000261590.12:c.1520G>A	ENSP00000261590.8:p.Cys507Tyr
NM_001943.3:c.1520G>A , LRG_397t1:c.1520G>A	NP_001934.2:p.Cys507Tyr
NM_001943.4:c.1520G>A	NP_001934.2:p.Cys507Tyr
XM_024451095.1:c.986G>A	XP_024306863.1:p.Cys329Tyr
NM_001943.5:c.1520G>A MANE Select	NP_001934.2:p.Cys507Tyr