Canonical Allele Identifier: CA379265740

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275998C>A (hg19) ; chr11:g.5254768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254768C>A , CM000673.2:g.5254768C>A	GRCh38
NC_000011.9:g.5275998C>A , CM000673.1:g.5275998C>A	GRCh37
NC_000011.8:g.5232574C>A	NCBI36
NG_000007.3:g.42848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.-40G>T MANE Select	ENSP00000338082.4:n.-40G>T
ENST00000380252.6:c.-73-254G>T	ENSP00000369602.2:n.-73-254G>T
ENST00000380259.7:c.1507G>T	ENSP00000369609.3:n.1507G>T
ENST00000642908.1:c.-40G>T	ENSP00000495346.1:n.-40G>T
ENST00000647543.1:c.-40G>T	ENSP00000496470.1:n.-40G>T
ENST00000336906.4:c.-40G>T	ENSP00000338082.4:n.-40G>T
ENST00000380252.5:c.63-254G>T	ENSP00000369602.1:n.63-254G>T
ENST00000380259.6:c.-40G>T	ENSP00000369609.2:n.-40G>T
ENST00000620888.4:c.-40G>T	ENSP00000479637.1:n.-40G>T
ENST00000624109.1:c.397C>A	ENSP00000485458.1:p.Pro133Thr
NM_000184.2:c.-40G>T	NP_000175.1:n.-40G>T
NM_000184.3:c.-40G>T MANE Select	NP_000175.1:n.-40G>T