Canonical Allele Identifier: CA124567

Gene: HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254429T>C , CM000673.2:g.5254429T>C	GRCh38
NC_000011.9:g.5275659T>C , CM000673.1:g.5275659T>C	GRCh37
NC_000011.8:g.5232235T>C	NCBI36
NG_000007.3:g.43187A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.178A>G MANE Select	ENSP00000338082.4:p.Lys60Glu
ENST00000380252.6:c.13A>G	ENSP00000369602.2:p.Lys5Glu
ENST00000380259.7:c.1724A>G	ENSP00000369609.3:n.1724A>G
ENST00000642908.1:c.178A>G	ENSP00000495346.1:p.Lys60Glu
ENST00000647543.1:c.178A>G	ENSP00000496470.1:p.Lys60Glu
ENST00000336906.4:c.178A>G	ENSP00000338082.4:p.Lys60Glu
ENST00000380252.5:c.148A>G	ENSP00000369602.1:p.Lys50Glu
ENST00000380259.6:c.178A>G	ENSP00000369609.2:p.Lys60Glu
ENST00000444587.1:c.*47A>G	ENSP00000488218.1:n.*47A>G
ENST00000620888.4:c.178A>G	ENSP00000479637.1:p.Lys60Glu
ENST00000624109.1:c.177T>C	ENSP00000485458.1:p.Phe59=
NM_000184.2:c.178A>G	NP_000175.1:p.Lys60Glu
NM_000184.3:c.178A>G MANE Select	NP_000175.1:p.Lys60Glu