Canonical Allele Identifier: CA402147514
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1963919
ClinVar RCV Id: RCV002716266
dbSNP Id: rs780327696

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546337C>G , CM000680.2:g.31546337C>G GRCh38
NC_000018.9:g.29126300C>G , CM000680.1:g.29126300C>G GRCh37
NC_000018.8:g.27380298C>G NCBI36
NG_007072.3:g.53096C>G , LRG_397:g.53096C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2951C>G (DSG2) MANE Select ENSP00000261590.8:p.Thr984Arg
ENST00000261590.12:c.2951C>G (DSG2) ENSP00000261590.8:p.Thr984Arg
NM_001943.3:c.2951C>G , LRG_397t1:c.2951C>G (DSG2) NP_001934.2:p.Thr984Arg
NR_045216.1:n.1346-431G>C (DSG2-AS1)
NM_001943.4:c.2951C>G (DSG2) NP_001934.2:p.Thr984Arg
XM_024451095.1:c.2417C>G (DSG2) XP_024306863.1:p.Thr806Arg
NM_001943.5:c.2951C>G (DSG2) MANE Select NP_001934.2:p.Thr984Arg