Canonical Allele Identifier: CA597205408
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v2: 11-5271305-C-CTGT
gnomAD v3: 11-5250075-C-CTGT
gnomAD v4: 11-5250075-C-CTGT
MyVariant Identifiers: chr11:g.5271305_5271306insTGT (hg19) chr11:g.5250075_5250076insTGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250077_5250078insTTG , CM000673.2:g.5250077_5250078insTTG GRCh38
NC_000011.9:g.5271307_5271308insTTG , CM000673.1:g.5271307_5271308insTTG GRCh37
NC_000011.8:g.5227883_5227884insTTG NCBI36
NG_000007.3:g.47540_47541insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1589_316-1588insACA ENSP00000495346.1:n.316-1589_316-1588insACA
ENST00000647543.1:c.379-1589_379-1588insACA ENSP00000496470.1:n.379-1589_379-1588insACA
ENST00000620888.4:c.316-1589_316-1588insACA ENSP00000479637.1:n.316-1589_316-1588insACA
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