Canonical Allele Identifier: CA022046
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 179849
dbSNP Id: rs386802145

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546667_31546669delinsTTA , CM000680.2:g.31546667_31546669delinsTTA GRCh38
NC_000018.9:g.29126630_29126632delinsTTA , CM000680.1:g.29126630_29126632delinsTTA GRCh37
NC_000018.8:g.27380628_27380630delinsTTA NCBI36
NG_007072.3:g.53426_53428delinsTTA , LRG_397:g.53426_53428delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.3281_3283delinsTTA (DSG2) MANE Select ENSP00000261590.8:p.Gly1094_His1095delinsValAsn
ENST00000261590.12:c.3281_3283delinsTTA (DSG2) ENSP00000261590.8:p.Gly1094_His1095delinsValAsn
NM_001943.3:c.3281_3283delinsTTA , LRG_397t1:c.3281_3283delinsTTA (DSG2) NP_001934.2:p.Gly1094_His1095delinsValAsn
NR_045216.1:n.1346-763_1346-761delinsTAA (DSG2-AS1)
NM_001943.4:c.3281_3283delinsTTA (DSG2) NP_001934.2:p.Gly1094_His1095delinsValAsn
XM_024451095.1:c.2747_2749delinsTTA (DSG2) XP_024306863.1:p.Gly916_His917delinsValAsn
NM_001943.5:c.3281_3283delinsTTA (DSG2) MANE Select NP_001934.2:p.Gly1094_His1095delinsValAsn