Canonical Allele Identifier: CA379264428

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275658T>A (hg19) ; chr11:g.5254428T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254428T>A , CM000673.2:g.5254428T>A	GRCh38
NC_000011.9:g.5275658T>A , CM000673.1:g.5275658T>A	GRCh37
NC_000011.8:g.5232234T>A	NCBI36
NG_000007.3:g.43188A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.179A>T MANE Select	ENSP00000338082.4:p.Lys60Ile
ENST00000380252.6:c.14A>T	ENSP00000369602.2:p.Lys5Ile
ENST00000380259.7:c.1725A>T	ENSP00000369609.3:n.1725A>T
ENST00000642908.1:c.179A>T	ENSP00000495346.1:p.Lys60Ile
ENST00000647543.1:c.179A>T	ENSP00000496470.1:p.Lys60Ile
ENST00000336906.4:c.179A>T	ENSP00000338082.4:p.Lys60Ile
ENST00000380252.5:c.149A>T	ENSP00000369602.1:p.Lys50Ile
ENST00000380259.6:c.179A>T	ENSP00000369609.2:p.Lys60Ile
ENST00000444587.1:c.*48A>T	ENSP00000488218.1:n.*48A>T
ENST00000620888.4:c.179A>T	ENSP00000479637.1:p.Lys60Ile
ENST00000624109.1:c.176T>A	ENSP00000485458.1:p.Phe59Tyr
NM_000184.2:c.179A>T	NP_000175.1:p.Lys60Ile
NM_000184.3:c.179A>T MANE Select	NP_000175.1:p.Lys60Ile