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

Linked Data

ClinVar Variation Id: 326490
dbSNP Id: rs774113529

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 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