Canonical Allele Identifier: CA379264079

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275526A>C (hg19) ; chr11:g.5254296A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254296A>C , CM000673.2:g.5254296A>C	GRCh38
NC_000011.9:g.5275526A>C , CM000673.1:g.5275526A>C	GRCh37
NC_000011.8:g.5232102A>C	NCBI36
NG_000007.3:g.43320T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.311T>G MANE Select	ENSP00000338082.4:p.Phe104Cys
ENST00000380252.6:c.146T>G	ENSP00000369602.2:p.Phe49Cys
ENST00000642908.1:c.311T>G	ENSP00000495346.1:p.Phe104Cys
ENST00000647543.1:c.311T>G	ENSP00000496470.1:p.Phe104Cys
ENST00000336906.4:c.311T>G	ENSP00000338082.4:p.Phe104Cys
ENST00000380252.5:c.281T>G	ENSP00000369602.1:p.Phe94Cys
ENST00000380259.6:c.311T>G	ENSP00000369609.2:p.Phe104Cys
ENST00000444587.1:c.*180T>G	ENSP00000488218.1:n.*180T>G
ENST00000620888.4:c.311T>G	ENSP00000479637.1:p.Phe104Cys
ENST00000624109.1:c.44A>C	ENSP00000485458.1:p.Glu15Ala
NM_000184.2:c.311T>G	NP_000175.1:p.Phe104Cys
NM_000184.3:c.311T>G MANE Select	NP_000175.1:p.Phe104Cys