Canonical Allele Identifier: CA047923
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 326490
ClinVar RCV Id: RCV000366310 RCV001187911
dbSNP Id: rs774113529
ExAC: 18:29126461 A / G
gnomAD v2: 18-29126461-A-G
gnomAD v3: 18-31546498-A-G
gnomAD v4: 18-31546498-A-G
MyVariant Identifiers: chr18:g.29126461A>G (hg19) chr18:g.31546498A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546498A>G , CM000680.2:g.31546498A>G GRCh38
NC_000018.9:g.29126461A>G , CM000680.1:g.29126461A>G GRCh37
NC_000018.8:g.27380459A>G NCBI36
NG_007072.3:g.53257A>G , LRG_397:g.53257A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3112A>G (DSG2) MANE Select ENSP00000261590.8:p.Ile1038Val
ENST00000261590.12:c.3112A>G (DSG2) ENSP00000261590.8:p.Ile1038Val
NM_001943.3:c.3112A>G , LRG_397t1:c.3112A>G (DSG2) NP_001934.2:p.Ile1038Val
NR_045216.1:n.1346-592T>C (DSG2-AS1)
NM_001943.4:c.3112A>G (DSG2) NP_001934.2:p.Ile1038Val
XM_024451095.1:c.2578A>G (DSG2) XP_024306863.1:p.Ile860Val
NM_001943.5:c.3112A>G (DSG2) MANE Select NP_001934.2:p.Ile1038Val
Search 100 bp 5'
Search 100 bp 3'