Canonical Allele Identifier: CA050154
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 258495
ClinVar RCV Id: RCV000251707 RCV002058092 RCV001668477 RCV003126653
dbSNP Id: rs3737378
ExAC: 18:29104564 C / A
gnomAD v2: 18-29104564-C-A
gnomAD v3: 18-31524601-C-A
gnomAD v4: 18-31524601-C-A
MyVariant Identifiers: chr18:g.29104564C>A (hg19) chr18:g.29104564_29104567delinsATAA (hg19) chr18:g.31524601C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524601C>A , CM000680.2:g.31524601C>A GRCh38
NC_000018.9:g.29104564C>A , CM000680.1:g.29104564C>A GRCh37
NC_000018.8:g.27358562C>A NCBI36
NG_007072.3:g.31360C>A , LRG_397:g.31360C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.659+16C>A
ENST00000683614.2:n.659+16C>A
ENST00000682087.1:c.659+16C>A
ENST00000683614.1:c.659+16C>A
ENST00000261590.13:c.828+16C>A MANE Select ENSP00000261590.8:n.828+16C>A
ENST00000261590.12:c.828+16C>A ENSP00000261590.8:n.828+16C>A
NM_001943.3:c.828+16C>A , LRG_397t1:c.828+16C>A NP_001934.2:n.828+16C>A
NM_001943.4:c.828+16C>A NP_001934.2:n.828+16C>A
XM_024451095.1:c.294+16C>A XP_024306863.1:n.294+16C>A
NM_001943.5:c.828+16C>A MANE Select NP_001934.2:n.828+16C>A
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