Canonical Allele Identifier: CA891843559
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 582579
ClinVar RCV Id: RCV000706687 RCV002493249
dbSNP Id: rs1567933176
gnomAD v4: 18-31542771-AG-A
MyVariant Identifiers: chr18:g.29122738del (hg19) chr18:g.31542775del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542775del , CM000680.2:g.31542775del GRCh38
NC_000018.9:g.29122738del , CM000680.1:g.29122738del GRCh37
NC_000018.8:g.27376736del NCBI36
NG_007072.3:g.49534del , LRG_397:g.49534del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2257del (DSG2) MANE Select ENSP00000261590.8:p.Ala753LeufsTer15
ENST00000261590.12:c.2257del (DSG2) ENSP00000261590.8:p.Ala753LeufsTer15
NM_001943.3:c.2257del , LRG_397t1:c.2257del (DSG2) NP_001934.2:p.Ala753LeufsTer15
NR_045216.1:n.1810+330del (DSG2-AS1)
NM_001943.4:c.2257del (DSG2) NP_001934.2:p.Ala753LeufsTer15
XM_024451095.1:c.1723del (DSG2) XP_024306863.1:p.Ala575LeufsTer15
NM_001943.5:c.2257del (DSG2) MANE Select NP_001934.2:p.Ala753LeufsTer15
Search 100 bp 5'
Search 100 bp 3'