Canonical Allele Identifier: CA2612151939

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254178-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254178C>A , CM000673.2:g.5254178C>A	GRCh38
NC_000011.9:g.5275408C>A , CM000673.1:g.5275408C>A	GRCh37
NC_000011.8:g.5231984C>A	NCBI36
NG_000007.3:g.43438G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.315+114G>T MANE Select	ENSP00000338082.4:n.315+114G>T
ENST00000380252.6:c.150+114G>T	ENSP00000369602.2:n.150+114G>T
ENST00000642908.1:c.315+114G>T	ENSP00000495346.1:n.315+114G>T
ENST00000647543.1:c.315+114G>T	ENSP00000496470.1:n.315+114G>T
ENST00000336906.4:c.315+114G>T	ENSP00000338082.4:n.315+114G>T
ENST00000380252.5:c.285+114G>T	ENSP00000369602.1:n.285+114G>T
ENST00000380259.6:c.315+114G>T	ENSP00000369609.2:n.315+114G>T
ENST00000444587.1:c.*184+114G>T	ENSP00000488218.1:n.*184+114G>T
ENST00000620888.4:c.315+114G>T	ENSP00000479637.1:n.315+114G>T
ENST00000624109.1:c.43-117C>A	ENSP00000485458.1:n.43-117C>A
NM_000184.2:c.315+114G>T	NP_000175.1:n.315+114G>T
NM_000184.3:c.315+114G>T MANE Select	NP_000175.1:n.315+114G>T