Canonical Allele Identifier: CA934695825
Gene: HBG2 HGNC NCBI

Linked Data

gnomAD v3: 11-5250078-C-CAGCT
gnomAD v4: 11-5250078-C-CAGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250078_5250079insAGCT , CM000673.2:g.5250078_5250079insAGCT GRCh38
NC_000011.9:g.5271308_5271309insAGCT , CM000673.1:g.5271308_5271309insAGCT GRCh37
NC_000011.8:g.5227884_5227885insAGCT NCBI36
NG_000007.3:g.47537_47538insAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000642908.1:c.316-1592_316-1591insAGCT ENSP00000495346.1:n.316-1592_316-1591insAGCT
ENST00000647543.1:c.379-1592_379-1591insAGCT ENSP00000496470.1:n.379-1592_379-1591insAGCT
ENST00000620888.4:c.316-1592_316-1591insAGCT ENSP00000479637.1:n.316-1592_316-1591insAGCT
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