Canonical Allele Identifier: CA021523

Gene: DSG2

Linked Data

• ClinVar Variation Id: 16818
• ClinVar RCV Id: RCV003944829
• dbSNP Id: rs121913013
• ExAC: 18:29099850 G / A
• gnomAD v2: 18-29099850-G-A
• gnomAD v3: 18-31519887-G-A
• gnomAD v4: 18-31519887-G-A
• MyVariant Identifiers: chr18:g.29099850G>A (hg19) ; chr18:g.31519887G>A (hg38)
• PubMed: PMID:17105751 ; PMID:18678517 ; PMID:19039334 ; PMID:20031616 ; PMID:20031617 ; PMID:20152563 ; PMID:20716751 ; PMID:20864495 ; PMID:21606390 ; PMID:23810883 ; PMID:23861362 ; PMID:24055113 ; PMID:25569433 ; PMID:25637381 ; PMID:27153395 ; PMID:28074886 ; PMID:28202948 ; PMID:28472724

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519887G>A , CM000680.2:g.31519887G>A	GRCh38
NC_000018.9:g.29099850G>A , CM000680.1:g.29099850G>A	GRCh37
NC_000018.8:g.27353848G>A	NCBI36
NG_007072.3:g.26646G>A , LRG_397:g.26646G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.166G>A	ENSP00000507600.2:p.Val56Met
ENST00000683654.1:c.166G>A	ENSP00000506971.1:p.Val56Met
ENST00000261590.13:c.166G>A MANE Select	ENSP00000261590.8:p.Val56Met
ENST00000261590.12:c.166G>A	ENSP00000261590.8:p.Val56Met
ENST00000585206.1:c.166G>A	ENSP00000462503.1:p.Val56Met
NM_001943.3:c.166G>A , LRG_397t1:c.166G>A	NP_001934.2:p.Val56Met
NM_001943.4:c.166G>A	NP_001934.2:p.Val56Met
XM_024451095.1:c.-369G>A	XP_024306863.1:n.-369G>A
NM_001943.5:c.166G>A MANE Select	NP_001934.2:p.Val56Met