Canonical Allele Identifier: CA021927
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199820
ClinVar RCV Id: RCV000202735 RCV000771781 RCV001699145 RCV000642340 RCV002433786
dbSNP Id: rs373598034
ExAC: 18:29126255 C / T
gnomAD v2: 18-29126255-C-T
gnomAD v3: 18-31546292-C-T
gnomAD v4: 18-31546292-C-T
MyVariant Identifiers: chr18:g.29126255C>T (hg19) chr18:g.31546292C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546292C>T , CM000680.2:g.31546292C>T GRCh38
NC_000018.9:g.29126255C>T , CM000680.1:g.29126255C>T GRCh37
NC_000018.8:g.27380253C>T NCBI36
NG_007072.3:g.53051C>T , LRG_397:g.53051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2906C>T (DSG2) MANE Select ENSP00000261590.8:p.Ala969Val
ENST00000261590.12:c.2906C>T (DSG2) ENSP00000261590.8:p.Ala969Val
NM_001943.3:c.2906C>T , LRG_397t1:c.2906C>T (DSG2) NP_001934.2:p.Ala969Val
NR_045216.1:n.1346-386G>A (DSG2-AS1)
NM_001943.4:c.2906C>T (DSG2) NP_001934.2:p.Ala969Val
XM_024451095.1:c.2372C>T (DSG2) XP_024306863.1:p.Ala791Val
NM_001943.5:c.2906C>T (DSG2) MANE Select NP_001934.2:p.Ala969Val
Search 100 bp 5'
Search 100 bp 3'