Canonical Allele Identifier: CA042615
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 923081
ClinVar RCV Id: RCV001183533 RCV001326631
dbSNP Id: rs747248279
ExAC: 18:29116221 G / A
gnomAD v2: 18-29116221-G-A
gnomAD v4: 18-31536258-G-A
MyVariant Identifiers: chr18:g.29116221G>A (hg19) chr18:g.31536258G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536258G>A , CM000680.2:g.31536258G>A GRCh38
NC_000018.9:g.29116221G>A , CM000680.1:g.29116221G>A GRCh37
NC_000018.8:g.27370219G>A NCBI36
NG_007072.3:g.43017G>A , LRG_397:g.43017G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1480G>A MANE Select ENSP00000261590.8:p.Asp494Asn
ENST00000261590.12:c.1480G>A ENSP00000261590.8:p.Asp494Asn
NM_001943.3:c.1480G>A , LRG_397t1:c.1480G>A NP_001934.2:p.Asp494Asn
NM_001943.4:c.1480G>A NP_001934.2:p.Asp494Asn
XM_024451095.1:c.946G>A XP_024306863.1:p.Asp316Asn
NM_001943.5:c.1480G>A MANE Select NP_001934.2:p.Asp494Asn
Search 100 bp 5'
Search 100 bp 3'