Canonical Allele Identifier: CA022107

Gene: DSG2

Linked Data

• ClinVar Variation Id: 44318
• ClinVar RCV Id: RCV000254127 ; RCV000037306 ; RCV000623308 ; RCV000472133 ; RCV000755253 ; RCV000777969
• dbSNP Id: rs372174546
• ExAC: 18:29078258 T / A
• gnomAD v2: 18-29078258-T-A
• gnomAD v3: 18-31498295-T-A
• gnomAD v4: 18-31498295-T-A
• MyVariant Identifiers: chr18:g.29078258T>A (hg19) ; chr18:g.31498295T>A (hg38)
• PubMed: PMID:18639457 ; PMID:20031616

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31498295T>A , CM000680.2:g.31498295T>A	GRCh38
NC_000018.9:g.29078258T>A , CM000680.1:g.29078258T>A	GRCh37
NC_000018.8:g.27332256T>A	NCBI36
NG_007072.3:g.5054T>A , LRG_397:g.5054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.44T>A	ENSP00000507600.2:p.Leu15Gln
ENST00000683654.1:c.44T>A	ENSP00000506971.1:p.Leu15Gln
ENST00000261590.13:c.44T>A MANE Select	ENSP00000261590.8:p.Leu15Gln
ENST00000261590.12:c.44T>A	ENSP00000261590.8:p.Leu15Gln
ENST00000585206.1:c.44T>A	ENSP00000462503.1:p.Leu15Gln
NM_001943.3:c.44T>A , LRG_397t1:c.44T>A	NP_001934.2:p.Leu15Gln
NM_001943.4:c.44T>A	NP_001934.2:p.Leu15Gln
NM_001943.5:c.44T>A MANE Select	NP_001934.2:p.Leu15Gln