Canonical Allele Identifier: CA021553

Gene: DSG2

Linked Data

• ClinVar Variation Id: 44287
• ClinVar RCV Id: RCV000037272 ; RCV000172530 ; RCV000618191 ; RCV000776195 ; RCV000852742 ; RCV001085411 ; RCV003952429
• dbSNP Id: rs199681901
• ExAC: 18:29118843 T / C
• gnomAD v2: 18-29118843-T-C
• gnomAD v3: 18-31538880-T-C
• gnomAD v4: 18-31538880-T-C
• MyVariant Identifiers: chr18:g.29118843T>C (hg19) ; chr18:g.31538880T>C (hg38)
• PubMed: PMID:21636032 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31538880T>C , CM000680.2:g.31538880T>C	GRCh38
NC_000018.9:g.29118843T>C , CM000680.1:g.29118843T>C	GRCh37
NC_000018.8:g.27372841T>C	NCBI36
NG_007072.3:g.45639T>C , LRG_397:g.45639T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.1781T>C MANE Select	ENSP00000261590.8:p.Leu594Pro
ENST00000261590.12:c.1781T>C	ENSP00000261590.8:p.Leu594Pro
NM_001943.3:c.1781T>C , LRG_397t1:c.1781T>C	NP_001934.2:p.Leu594Pro
NM_001943.4:c.1781T>C	NP_001934.2:p.Leu594Pro
XM_024451095.1:c.1247T>C	XP_024306863.1:p.Leu416Pro
NM_001943.5:c.1781T>C MANE Select	NP_001934.2:p.Leu594Pro