Canonical Allele Identifier: CA934695820

Gene: HBG2

Linked Data

• dbSNP Id: rs1847928963
• gnomAD v3: 11-5250078-C-CGGCT
• gnomAD v4: 11-5250078-C-CGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5250078_5250079insGGCT , CM000673.2:g.5250078_5250079insGGCT	GRCh38
NC_000011.9:g.5271308_5271309insGGCT , CM000673.1:g.5271308_5271309insGGCT	GRCh37
NC_000011.8:g.5227884_5227885insGGCT	NCBI36
NG_000007.3:g.47537_47538insAGCC

Transcript Alleles

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