Canonical Allele Identifier: CA653938681

Gene: HBG2

Linked Data

• gnomAD v4: 11-5253250-G-A
• COSMIC: COSN8407268

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253250G>A , CM000673.2:g.5253250G>A	GRCh38
NC_000011.9:g.5274480G>A , CM000673.1:g.5274480G>A	GRCh37
NC_000011.8:g.5231056G>A	NCBI36
NG_000007.3:g.44366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.*27C>T MANE Select	ENSP00000338082.4:n.*27C>T
ENST00000380252.6:c.*27C>T	ENSP00000369602.2:n.*27C>T
ENST00000642908.1:c.315+1042C>T	ENSP00000495346.1:n.315+1042C>T
ENST00000647543.1:c.378+93C>T	ENSP00000496470.1:n.378+93C>T
ENST00000336906.4:c.*27C>T	ENSP00000338082.4:n.*27C>T
ENST00000380252.5:c.*27C>T	ENSP00000369602.1:n.*27C>T
ENST00000380259.6:c.*27C>T	ENSP00000369609.2:n.*27C>T
ENST00000620888.4:c.315+1042C>T	ENSP00000479637.1:n.315+1042C>T
NM_000184.2:c.*27C>T	NP_000175.1:n.*27C>T
NM_000184.3:c.*27C>T MANE Select	NP_000175.1:n.*27C>T