Canonical Allele Identifier: CA2612151348

Gene: HBG2

Linked Data

• gnomAD v4: 11-5253218-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253218A>G , CM000673.2:g.5253218A>G	GRCh38
NC_000011.9:g.5274448A>G , CM000673.1:g.5274448A>G	GRCh37
NC_000011.8:g.5231024A>G	NCBI36
NG_000007.3:g.44398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.*59T>C MANE Select	ENSP00000338082.4:n.*59T>C
ENST00000380252.6:c.*59T>C	ENSP00000369602.2:n.*59T>C
ENST00000642908.1:c.315+1074T>C	ENSP00000495346.1:n.315+1074T>C
ENST00000647543.1:c.378+125T>C	ENSP00000496470.1:n.378+125T>C
ENST00000336906.4:c.*59T>C	ENSP00000338082.4:n.*59T>C
ENST00000380252.5:c.*59T>C	ENSP00000369602.1:n.*59T>C
ENST00000380259.6:c.*59T>C	ENSP00000369609.2:n.*59T>C
ENST00000620888.4:c.315+1074T>C	ENSP00000479637.1:n.315+1074T>C
NM_000184.2:c.*59T>C	NP_000175.1:n.*59T>C
NM_000184.3:c.*59T>C MANE Select	NP_000175.1:n.*59T>C