Canonical Allele Identifier: CA044873
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222563
ClinVar RCV Id: RCV000208311 RCV001187851 RCV002415875 RCV002517393 RCV003997673
dbSNP Id: rs141388237
ExAC: 18:29122591 A / G
gnomAD v2: 18-29122591-A-G
gnomAD v3: 18-31542628-A-G
gnomAD v4: 18-31542628-A-G
MyVariant Identifiers: chr18:g.29122591A>G (hg19) chr18:g.31542628A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542628A>G , CM000680.2:g.31542628A>G GRCh38
NC_000018.9:g.29122591A>G , CM000680.1:g.29122591A>G GRCh37
NC_000018.8:g.27376589A>G NCBI36
NG_007072.3:g.49387A>G , LRG_397:g.49387A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2110A>G (DSG2) MANE Select ENSP00000261590.8:p.Ile704Val
ENST00000261590.12:c.2110A>G (DSG2) ENSP00000261590.8:p.Ile704Val
NM_001943.3:c.2110A>G , LRG_397t1:c.2110A>G (DSG2) NP_001934.2:p.Ile704Val
NR_045216.1:n.1811-307T>C (DSG2-AS1)
NM_001943.4:c.2110A>G (DSG2) NP_001934.2:p.Ile704Val
XM_024451095.1:c.1576A>G (DSG2) XP_024306863.1:p.Ile526Val
NM_001943.5:c.2110A>G (DSG2) MANE Select NP_001934.2:p.Ile704Val
Search 100 bp 5'
Search 100 bp 3'