Canonical Allele Identifier: CA022113
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199822
dbSNP Id: rs794728091

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521184_31521185insT , CM000680.2:g.31521184_31521185insT GRCh38
NC_000018.9:g.29101147_29101148insT , CM000680.1:g.29101147_29101148insT GRCh37
NC_000018.8:g.27355145_27355146insT NCBI36
NG_007072.3:g.27943_27944insT , LRG_397:g.27943_27944insT

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.464_465insT MANE Select ENSP00000261590.8:p.Glu156ArgfsTer14
ENST00000261590.12:c.464_465insT ENSP00000261590.8:p.Glu156ArgfsTer14
ENST00000585206.1:c.464_465insT ENSP00000462503.1:p.Glu156ArgfsTer14
NM_001943.3:c.464_465insT , LRG_397t1:c.464_465insT NP_001934.2:p.Glu156ArgfsTer14
NM_001943.4:c.464_465insT NP_001934.2:p.Glu156ArgfsTer14
XM_024451095.1:c.-71_-70insT XP_024306863.1:p.=
NM_001943.5:c.464_465insT MANE Select NP_001934.2:p.Glu156ArgfsTer14