Canonical Allele Identifier: CA379264688

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275721G>T (hg19) ; chr11:g.5254491G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254491G>T , CM000673.2:g.5254491G>T	GRCh38
NC_000011.9:g.5275721G>T , CM000673.1:g.5275721G>T	GRCh37
NC_000011.8:g.5232297G>T	NCBI36
NG_000007.3:g.43125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.116C>A MANE Select	ENSP00000338082.4:p.Thr39Asn
ENST00000380252.6:c.-50C>A	ENSP00000369602.2:n.-50C>A
ENST00000380259.7:c.1662C>A	ENSP00000369609.3:n.1662C>A
ENST00000642908.1:c.116C>A	ENSP00000495346.1:p.Thr39Asn
ENST00000647543.1:c.116C>A	ENSP00000496470.1:p.Thr39Asn
ENST00000336906.4:c.116C>A	ENSP00000338082.4:p.Thr39Asn
ENST00000380252.5:c.86C>A	ENSP00000369602.1:p.Thr29Asn
ENST00000380259.6:c.116C>A	ENSP00000369609.2:p.Thr39Asn
ENST00000444587.1:c.78C>A	ENSP00000488218.1:p.Asp26Glu
ENST00000620888.4:c.116C>A	ENSP00000479637.1:p.Thr39Asn
ENST00000624109.1:c.239G>T	ENSP00000485458.1:p.Gly80Val
NM_000184.2:c.116C>A	NP_000175.1:p.Thr39Asn
NM_000184.3:c.116C>A MANE Select	NP_000175.1:p.Thr39Asn