Canonical Allele Identifier: CA402141677
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2044817
ClinVar RCV Id: RCV002917706

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542616A>G , CM000680.2:g.31542616A>G GRCh38
NC_000018.9:g.29122579A>G , CM000680.1:g.29122579A>G GRCh37
NC_000018.8:g.27376577A>G NCBI36
NG_007072.3:g.49375A>G , LRG_397:g.49375A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2098A>G (DSG2) MANE Select ENSP00000261590.8:p.Ser700Gly
ENST00000261590.12:c.2098A>G (DSG2) ENSP00000261590.8:p.Ser700Gly
NM_001943.3:c.2098A>G , LRG_397t1:c.2098A>G (DSG2) NP_001934.2:p.Ser700Gly
NR_045216.1:n.1811-295T>C (DSG2-AS1)
NM_001943.4:c.2098A>G (DSG2) NP_001934.2:p.Ser700Gly
XM_024451095.1:c.1564A>G (DSG2) XP_024306863.1:p.Ser522Gly
NM_001943.5:c.2098A>G (DSG2) MANE Select NP_001934.2:p.Ser700Gly