Canonical Allele Identifier: CA2612152116

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254286-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254286A>G , CM000673.2:g.5254286A>G	GRCh38
NC_000011.9:g.5275516A>G , CM000673.1:g.5275516A>G	GRCh37
NC_000011.8:g.5232092A>G	NCBI36
NG_000007.3:g.43330T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.315+6T>C MANE Select	ENSP00000338082.4:n.315+6T>C
ENST00000380252.6:c.150+6T>C	ENSP00000369602.2:n.150+6T>C
ENST00000642908.1:c.315+6T>C	ENSP00000495346.1:n.315+6T>C
ENST00000647543.1:c.315+6T>C	ENSP00000496470.1:n.315+6T>C
ENST00000336906.4:c.315+6T>C	ENSP00000338082.4:n.315+6T>C
ENST00000380252.5:c.285+6T>C	ENSP00000369602.1:n.285+6T>C
ENST00000380259.6:c.315+6T>C	ENSP00000369609.2:n.315+6T>C
ENST00000444587.1:c.*184+6T>C	ENSP00000488218.1:n.*184+6T>C
ENST00000620888.4:c.315+6T>C	ENSP00000479637.1:n.315+6T>C
ENST00000624109.1:c.43-9A>G	ENSP00000485458.1:n.43-9A>G
NM_000184.2:c.315+6T>C	NP_000175.1:n.315+6T>C
NM_000184.3:c.315+6T>C MANE Select	NP_000175.1:n.315+6T>C