Canonical Allele Identifier: CA778425536
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780418
ClinVar RCV Id: RCV003631376
dbSNP Id: rs1332523449
gnomAD v3: 18-31546598-C-CT
gnomAD v4: 18-31546598-C-CT
MyVariant Identifiers: chr18:g.29126561_29126562insT (hg19) chr18:g.31546598_31546599insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546599dup , CM000680.2:g.31546599dup GRCh38
NC_000018.9:g.29126562dup , CM000680.1:g.29126562dup GRCh37
NC_000018.8:g.27380560dup NCBI36
NG_007072.3:g.53358dup , LRG_397:g.53358dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3213dup (DSG2) MANE Select ENSP00000261590.8:p.Arg1072Ter
ENST00000261590.12:c.3213dup (DSG2) ENSP00000261590.8:p.Arg1072Ter
NM_001943.3:c.3213dup , LRG_397t1:c.3213dup (DSG2) NP_001934.2:p.Arg1072Ter
NR_045216.1:n.1346-693dup (DSG2-AS1)
NM_001943.4:c.3213dup (DSG2) NP_001934.2:p.Arg1072Ter
XM_024451095.1:c.2679dup (DSG2) XP_024306863.1:p.Arg894Ter
NM_001943.5:c.3213dup (DSG2) MANE Select NP_001934.2:p.Arg1072Ter
Search 100 bp 5'
Search 100 bp 3'