Canonical Allele Identifier: CA048420
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171153
ClinVar RCV Id: RCV001524075 RCV002334573 RCV002466679 RCV002251768 RCV004007253 RCV003771576
dbSNP Id: rs753052874
ExAC: 18:29100904 C / T
gnomAD v2: 18-29100904-C-T
gnomAD v3: 18-31520941-C-T
gnomAD v4: 18-31520941-C-T
COSMIC: COSM1580807
MyVariant Identifiers: chr18:g.29100904C>T (hg19) chr18:g.31520941C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31520941C>T , CM000680.2:g.31520941C>T GRCh38
NC_000018.9:g.29100904C>T , CM000680.1:g.29100904C>T GRCh37
NC_000018.8:g.27354902C>T NCBI36
NG_007072.3:g.27700C>T , LRG_397:g.27700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.186C>T
ENST00000682241.2:c.355C>T ENSP00000507600.2:p.Arg119Ter
ENST00000683614.2:n.186C>T
ENST00000682087.1:c.186C>T
ENST00000682241.1:c.186C>T
ENST00000683614.1:c.186C>T
ENST00000683654.1:c.355C>T ENSP00000506971.1:p.Arg119Ter
ENST00000684461.1:n.186C>T
ENST00000261590.13:c.355C>T MANE Select ENSP00000261590.8:p.Arg119Ter
ENST00000261590.12:c.355C>T ENSP00000261590.8:p.Arg119Ter
ENST00000585206.1:c.355C>T ENSP00000462503.1:p.Arg119Ter
NM_001943.3:c.355C>T , LRG_397t1:c.355C>T NP_001934.2:p.Arg119Ter
NM_001943.4:c.355C>T NP_001934.2:p.Arg119Ter
XM_024451095.1:c.-180C>T XP_024306863.1:n.-180C>T
NM_001943.5:c.355C>T MANE Select NP_001934.2:p.Arg119Ter
Search 100 bp 5'
Search 100 bp 3'