Canonical Allele Identifier: CA913188898
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 629667
ClinVar RCV Id: RCV000774377
dbSNP Id: rs1567933186
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542782_31542787dup , CM000680.2:g.31542782_31542787dup GRCh38
NC_000018.9:g.29122745_29122750dup , CM000680.1:g.29122745_29122750dup GRCh37
NC_000018.8:g.27376743_27376748dup NCBI36
NG_007072.3:g.49541_49546dup , LRG_397:g.49541_49546dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2264_2269dup (DSG2) MANE Select ENSP00000261590.8:p.Asp756_Met757insArgAsp
ENST00000261590.12:c.2264_2269dup (DSG2) ENSP00000261590.8:p.Asp756_Met757insArgAsp
NM_001943.3:c.2264_2269dup , LRG_397t1:c.2264_2269dup (DSG2) NP_001934.2:p.Asp756_Met757insArgAsp
NR_045216.1:n.1810+317_1810+322dup (DSG2-AS1)
NM_001943.4:c.2264_2269dup (DSG2) NP_001934.2:p.Asp756_Met757insArgAsp
XM_024451095.1:c.1730_1735dup (DSG2) XP_024306863.1:p.Asp578_Met579insArgAsp
NM_001943.5:c.2264_2269dup (DSG2) MANE Select NP_001934.2:p.Asp756_Met757insArgAsp
Search 100 bp 5'
Search 100 bp 3'