Canonical Allele Identifier: CA048986
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 921954
ClinVar RCV Id: RCV001181710 RCV002505768 RCV002559789 RCV004006759
dbSNP Id: rs566251077
ExAC: 18:29101149 G / A
gnomAD v2: 18-29101149-G-A
gnomAD v3: 18-31521186-G-A
gnomAD v4: 18-31521186-G-A
COSMIC: COSM3525242
MyVariant Identifiers: chr18:g.29101149G>A (hg19) chr18:g.31521186G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521186G>A , CM000680.2:g.31521186G>A GRCh38
NC_000018.9:g.29101149G>A , CM000680.1:g.29101149G>A GRCh37
NC_000018.8:g.27355147G>A NCBI36
NG_007072.3:g.27945G>A , LRG_397:g.27945G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.297G>A
ENST00000682241.2:c.466G>A ENSP00000507600.2:p.Glu156Lys
ENST00000683614.2:n.297G>A
ENST00000682087.1:c.297G>A
ENST00000682241.1:c.297G>A
ENST00000683614.1:c.297G>A
ENST00000683654.1:c.466G>A ENSP00000506971.1:p.Glu156Lys
ENST00000684461.1:n.297G>A
ENST00000261590.13:c.466G>A MANE Select ENSP00000261590.8:p.Glu156Lys
ENST00000261590.12:c.466G>A ENSP00000261590.8:p.Glu156Lys
ENST00000585206.1:c.466G>A ENSP00000462503.1:p.Glu156Lys
NM_001943.3:c.466G>A , LRG_397t1:c.466G>A NP_001934.2:p.Glu156Lys
NM_001943.4:c.466G>A NP_001934.2:p.Glu156Lys
XM_024451095.1:c.-69G>A XP_024306863.1:n.-69G>A
NM_001943.5:c.466G>A MANE Select NP_001934.2:p.Glu156Lys
Search 100 bp 5'
Search 100 bp 3'