Canonical Allele Identifier: CA629147175
Gene: DSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1407428508
gnomAD v2: 18-29078186-C-A
gnomAD v4: 18-31498223-C-A
MyVariant Identifiers: chr18:g.29078186C>A (hg19) chr18:g.31498223C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31498223C>A , CM000680.2:g.31498223C>A GRCh38
NC_000018.9:g.29078186C>A , CM000680.1:g.29078186C>A GRCh37
NC_000018.8:g.27332184C>A NCBI36
NG_007072.3:g.4982C>A , LRG_397:g.4982C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682241.2:c.-29C>A ENSP00000507600.2:n.-29C>A
ENST00000261590.13:c.-29C>A MANE Select ENSP00000261590.8:n.-29C>A
ENST00000261590.12:c.-29C>A ENSP00000261590.8:n.-29C>A
ENST00000585206.1:c.-29C>A ENSP00000462503.1:n.-29C>A
NM_001943.3:c.-29C>A , LRG_397t1:c.-29C>A NP_001934.2:n.-29C>A
NM_001943.4:c.-29C>A NP_001934.2:n.-29C>A
NM_001943.5:c.-29C>A MANE Select NP_001934.2:n.-29C>A
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