Canonical Allele Identifier: CA8928358
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684841
ClinVar RCV Id: RCV001858460
dbSNP Id: rs763907170
ExAC: 18:29125897 GA / G
gnomAD v2: 18-29125897-GA-G
gnomAD v3: 18-31545934-GA-G
gnomAD v4: 18-31545934-GA-G
MyVariant Identifiers: chr18:g.29125898del (hg19) chr18:g.31545935del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545937del , CM000680.2:g.31545937del GRCh38
NC_000018.9:g.29125900del , CM000680.1:g.29125900del GRCh37
NC_000018.8:g.27379898del NCBI36
NG_007072.3:g.52696del , LRG_397:g.52696del

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.2551del (DSG2) MANE Select ENSP00000261590.8:p.Ile851LeufsTer13
ENST00000261590.12:c.2551del (DSG2) ENSP00000261590.8:p.Ile851LeufsTer13
NM_001943.3:c.2551del , LRG_397t1:c.2551del (DSG2) NP_001934.2:p.Ile851LeufsTer13
NR_045216.1:n.1346-29del (DSG2-AS1)
NM_001943.4:c.2551del (DSG2) NP_001934.2:p.Ile851LeufsTer13
XM_024451095.1:c.2017del (DSG2) XP_024306863.1:p.Ile673LeufsTer13
NM_001943.5:c.2551del (DSG2) MANE Select NP_001934.2:p.Ile851LeufsTer13
Search 100 bp 5'
Search 100 bp 3'