Canonical Allele Identifier: CA2573155225
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459814
ClinVar RCV Id: RCV001963173
dbSNP Id: rs2144322985
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524783del , CM000680.2:g.31524783del GRCh38
NC_000018.9:g.29104746del , CM000680.1:g.29104746del GRCh37
NC_000018.8:g.27358744del NCBI36
NG_007072.3:g.31542del , LRG_397:g.31542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.740del
ENST00000683614.2:n.740del
ENST00000682087.1:c.740del
ENST00000683614.1:c.740del
ENST00000261590.13:c.909del MANE Select ENSP00000261590.8:p.Asp304IlefsTer20
ENST00000261590.12:c.909del ENSP00000261590.8:p.Asp304IlefsTer20
NM_001943.3:c.909del , LRG_397t1:c.909del NP_001934.2:p.Asp304IlefsTer20
NM_001943.4:c.909del NP_001934.2:p.Asp304IlefsTer20
XM_024451095.1:c.375del XP_024306863.1:p.Asp126IlefsTer20
NM_001943.5:c.909del MANE Select NP_001934.2:p.Asp304IlefsTer20
Search 100 bp 5'
Search 100 bp 3'