Canonical Allele Identifier: CA597205380
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1429932371
gnomAD v2: 11-5271178-A-ACTGGATACTCTAAGACAAG
gnomAD v3: 11-5249948-A-ACTGGATACTCTAAGACAAG
gnomAD v4: 11-5249948-A-ACTGGATACTCTAAGACAAG
MyVariant Identifiers: chr11:g.5271178_5271179insCTGGATACTCTAAGACAAG (hg19) chr11:g.5249948_5249949insCTGGATACTCTAAGACAAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249948_5249949insCTGGATACTCTAAGACAAG , CM000673.2:g.5249948_5249949insCTGGATACTCTAAGACAAG GRCh38
NC_000011.9:g.5271178_5271179insCTGGATACTCTAAGACAAG , CM000673.1:g.5271178_5271179insCTGGATACTCTAAGACAAG GRCh37
NC_000011.8:g.5227754_5227755insCTGGATACTCTAAGACAAG NCBI36
NG_000007.3:g.47667_47668insCTTGTCTTAGAGTATCCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1462_316-1461insCTTGTCTTAGAGTATCCAG ENSP00000495346.1:n.316-1462_316-1461insCTTGTCTTAGAGTATCCAG
ENST00000647543.1:c.379-1462_379-1461insCTTGTCTTAGAGTATCCAG ENSP00000496470.1:n.379-1462_379-1461insCTTGTCTTAGAGTATCCAG
ENST00000620888.4:c.316-1462_316-1461insCTTGTCTTAGAGTATCCAG ENSP00000479637.1:n.316-1462_316-1461insCTTGTCTTAGAGTATCCAG
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