Canonical Allele Identifier: CA629453721
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069061
ClinVar RCV Id: RCV001380806 RCV002282534
dbSNP Id: rs1261674855
gnomAD v2: 18-29126398-A-AG
gnomAD v4: 18-31546435-A-AG
MyVariant Identifiers: chr18:g.29126398_29126399insG (hg19) chr18:g.31546435_31546436insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546438dup , CM000680.2:g.31546438dup GRCh38
NC_000018.9:g.29126401dup , CM000680.1:g.29126401dup GRCh37
NC_000018.8:g.27380399dup NCBI36
NG_007072.3:g.53197dup , LRG_397:g.53197dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3052dup (DSG2) MANE Select ENSP00000261590.8:p.Glu1018GlyfsTer20
ENST00000261590.12:c.3052dup (DSG2) ENSP00000261590.8:p.Glu1018GlyfsTer20
NM_001943.3:c.3052dup , LRG_397t1:c.3052dup (DSG2) NP_001934.2:p.Glu1018GlyfsTer20
NR_045216.1:n.1346-530dup (DSG2-AS1)
NM_001943.4:c.3052dup (DSG2) NP_001934.2:p.Glu1018GlyfsTer20
XM_024451095.1:c.2518dup (DSG2) XP_024306863.1:p.Glu840GlyfsTer20
NM_001943.5:c.3052dup (DSG2) MANE Select NP_001934.2:p.Glu1018GlyfsTer20
Search 100 bp 5'
Search 100 bp 3'