Canonical Allele Identifier: CA379264613

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275709A>C (hg19) ; chr11:g.5254479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254479A>C , CM000673.2:g.5254479A>C	GRCh38
NC_000011.9:g.5275709A>C , CM000673.1:g.5275709A>C	GRCh37
NC_000011.8:g.5232285A>C	NCBI36
NG_000007.3:g.43137T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.128T>G MANE Select	ENSP00000338082.4:p.Phe43Cys
ENST00000380252.6:c.-38T>G	ENSP00000369602.2:n.-38T>G
ENST00000380259.7:c.1674T>G	ENSP00000369609.3:n.1674T>G
ENST00000642908.1:c.128T>G	ENSP00000495346.1:p.Phe43Cys
ENST00000647543.1:c.128T>G	ENSP00000496470.1:p.Phe43Cys
ENST00000336906.4:c.128T>G	ENSP00000338082.4:p.Phe43Cys
ENST00000380252.5:c.98T>G	ENSP00000369602.1:p.Phe33Cys
ENST00000380259.6:c.128T>G	ENSP00000369609.2:p.Phe43Cys
ENST00000444587.1:c.90T>G	ENSP00000488218.1:p.Leu30=
ENST00000620888.4:c.128T>G	ENSP00000479637.1:p.Phe43Cys
ENST00000624109.1:c.227A>C	ENSP00000485458.1:p.Lys76Thr
NM_000184.2:c.128T>G	NP_000175.1:p.Phe43Cys
NM_000184.3:c.128T>G MANE Select	NP_000175.1:p.Phe43Cys