Canonical Allele Identifier: CA217119060
Gene: HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs561507744
gnomAD v2: 11-5271308-C-CTGCT
gnomAD v3: 11-5250078-C-CTGCT
gnomAD v4: 11-5250078-C-CTGCT
MyVariant Identifiers: chr11:g.5271309_5271310insGCTT (hg19) chr11:g.5271308_5271309insTGCT (hg19) chr11:g.5250079_5250080insGCTT (hg38) chr11:g.5250078_5250079insTGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5250079_5250080insGCTT , CM000673.2:g.5250079_5250080insGCTT GRCh38
NC_000011.9:g.5271309_5271310insGCTT , CM000673.1:g.5271309_5271310insGCTT GRCh37
NC_000011.8:g.5227885_5227886insGCTT NCBI36
NG_000007.3:g.47537_47538insAGCA

Transcript Alleles

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