Canonical Allele Identifier: CA2612152481

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254497-G-GGGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254499_5254502dup , CM000673.2:g.5254499_5254502dup	GRCh38
NC_000011.9:g.5275729_5275732dup , CM000673.1:g.5275729_5275732dup	GRCh37
NC_000011.8:g.5232305_5232308dup	NCBI36
NG_000007.3:g.43115_43118dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.106_109dup MANE Select	ENSP00000338082.4:p.Pro37LeufsTer9
ENST00000380252.6:c.-60_-57dup	ENSP00000369602.2:n.-60_-57dup
ENST00000380259.7:c.1652_1655dup	ENSP00000369609.3:n.1652_1655dup
ENST00000642908.1:c.106_109dup	ENSP00000495346.1:p.Pro37LeufsTer9
ENST00000647543.1:c.106_109dup	ENSP00000496470.1:p.Pro37LeufsTer9
ENST00000336906.4:c.106_109dup	ENSP00000338082.4:p.Pro37LeufsTer9
ENST00000380252.5:c.76_79dup	ENSP00000369602.1:p.Pro27LeufsTer9
ENST00000380259.6:c.106_109dup	ENSP00000369609.2:p.Pro37LeufsTer9
ENST00000444587.1:c.68_71dup	ENSP00000488218.1:p.Met25ThrfsTer?
ENST00000620888.4:c.106_109dup	ENSP00000479637.1:p.Pro37LeufsTer9
ENST00000624109.1:c.247_250dup	ENSP00000485458.1:p.Asp84GlyfsTer26
NM_000184.2:c.106_109dup	NP_000175.1:p.Pro37LeufsTer9
NM_000184.3:c.106_109dup MANE Select	NP_000175.1:p.Pro37LeufsTer9