Canonical Allele Identifier: CA402135633
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 919478
ClinVar RCV Id: RCV001177712 RCV001326290 RCV004006402 RCV003325547 RCV004033010
dbSNP Id: rs1338174918
gnomAD v2: 18-29104742-G-A
gnomAD v4: 18-31524779-G-A
COSMIC: COSM4400237
MyVariant Identifiers: chr18:g.29104742G>A (hg19) chr18:g.31524779G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524779G>A , CM000680.2:g.31524779G>A GRCh38
NC_000018.9:g.29104742G>A , CM000680.1:g.29104742G>A GRCh37
NC_000018.8:g.27358740G>A NCBI36
NG_007072.3:g.31538G>A , LRG_397:g.31538G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.736G>A
ENST00000683614.2:n.736G>A
ENST00000682087.1:c.736G>A
ENST00000683614.1:c.736G>A
ENST00000261590.13:c.905G>A MANE Select ENSP00000261590.8:p.Gly302Asp
ENST00000261590.12:c.905G>A ENSP00000261590.8:p.Gly302Asp
NM_001943.3:c.905G>A , LRG_397t1:c.905G>A NP_001934.2:p.Gly302Asp
NM_001943.4:c.905G>A NP_001934.2:p.Gly302Asp
XM_024451095.1:c.371G>A XP_024306863.1:p.Gly124Asp
NM_001943.5:c.905G>A MANE Select NP_001934.2:p.Gly302Asp
Search 100 bp 5'
Search 100 bp 3'