Canonical Allele Identifier: CA677767922
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs561507744
gnomAD v3: 11-5250078-C-CTGCG
gnomAD v4: 11-5250078-C-CTGCG
MyVariant Identifiers: chr11:g.5271308_5271309insTGCG (hg19) chr11:g.5250078_5250079insTGCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250079_5250080insGCGT , CM000673.2:g.5250079_5250080insGCGT GRCh38
NC_000011.9:g.5271309_5271310insGCGT , CM000673.1:g.5271309_5271310insGCGT GRCh37
NC_000011.8:g.5227885_5227886insGCGT NCBI36
NG_000007.3:g.47537_47538insCGCA

Transcript Alleles

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