Canonical Allele Identifier: CA047337
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 695392
ClinVar RCV Id: RCV000860995 RCV001181797 RCV001531284 RCV002434057 RCV004002909
dbSNP Id: rs775759794
ExAC: 18:29126202 G / A
gnomAD v2: 18-29126202-G-A
gnomAD v3: 18-31546239-G-A
gnomAD v4: 18-31546239-G-A
MyVariant Identifiers: chr18:g.29126202G>A (hg19) chr18:g.31546239G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546239G>A , CM000680.2:g.31546239G>A GRCh38
NC_000018.9:g.29126202G>A , CM000680.1:g.29126202G>A GRCh37
NC_000018.8:g.27380200G>A NCBI36
NG_007072.3:g.52998G>A , LRG_397:g.52998G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2853G>A (DSG2) MANE Select ENSP00000261590.8:p.Val951=
ENST00000261590.12:c.2853G>A (DSG2) ENSP00000261590.8:p.Val951=
NM_001943.3:c.2853G>A , LRG_397t1:c.2853G>A (DSG2) NP_001934.2:p.Val951=
NR_045216.1:n.1346-333C>T (DSG2-AS1)
NM_001943.4:c.2853G>A (DSG2) NP_001934.2:p.Val951=
XM_024451095.1:c.2319G>A (DSG2) XP_024306863.1:p.Val773=
NM_001943.5:c.2853G>A (DSG2) MANE Select NP_001934.2:p.Val951=
Search 100 bp 5'
Search 100 bp 3'