Canonical Allele Identifier: CA402141425
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 920977
ClinVar RCV Id: RCV001180096 RCV001372666 RCV004006623
dbSNP Id: rs1346150383
gnomAD v2: 18-29116228-G-A
gnomAD v4: 18-31536265-G-A
MyVariant Identifiers: chr18:g.29116228G>A (hg19) chr18:g.31536265G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536265G>A , CM000680.2:g.31536265G>A GRCh38
NC_000018.9:g.29116228G>A , CM000680.1:g.29116228G>A GRCh37
NC_000018.8:g.27370226G>A NCBI36
NG_007072.3:g.43024G>A , LRG_397:g.43024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.1487G>A MANE Select ENSP00000261590.8:p.Cys496Tyr
ENST00000261590.12:c.1487G>A ENSP00000261590.8:p.Cys496Tyr
NM_001943.3:c.1487G>A , LRG_397t1:c.1487G>A NP_001934.2:p.Cys496Tyr
NM_001943.4:c.1487G>A NP_001934.2:p.Cys496Tyr
XM_024451095.1:c.953G>A XP_024306863.1:p.Cys318Tyr
NM_001943.5:c.1487G>A MANE Select NP_001934.2:p.Cys496Tyr
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