Canonical Allele Identifier: CA379269482

Gene: HBE1 HBG2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5269561T>A , CM000673.2:g.5269561T>A	GRCh38
NC_000011.9:g.5290791T>A , CM000673.1:g.5290791T>A	GRCh37
NC_000011.8:g.5247367T>A	NCBI36
NG_000007.3:g.28055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292896.3:c.208A>T (HBE1)	ENSP00000292896.2:p.Thr70Ser
ENST00000380252.6:c.-73-15047A>T (HBG2)	ENSP00000369602.2:n.-73-15047A>T
ENST00000380259.7:c.1110-14396A>T	ENSP00000369609.3:n.1110-14396A>T
ENST00000396895.3:c.208A>T (HBE1) MANE Select	ENSP00000380104.2:p.Thr70Ser
ENST00000643199.1:n.535A>T
ENST00000646569.1:n.59-10024A>T
ENST00000292896.2:c.208A>T (HBE1)	ENSP00000292896.2:p.Thr70Ser
ENST00000380237.5:c.208A>T (HBE1)	ENSP00000369586.1:p.Thr70Ser
ENST00000380252.5:c.63-15047A>T (HBG2)	ENSP00000369602.1:n.63-15047A>T
ENST00000380259.6:c.-437-14396A>T (HBG2)	ENSP00000369609.2:n.-437-14396A>T
ENST00000396895.1:c.208A>T (HBE1)	ENSP00000380104.1:p.Thr70Ser
NM_005330.3:c.208A>T (HBE1)	NP_005321.1:p.Thr70Ser
XM_011520036.1:c.208A>T (HBE1)	XP_011518338.1:p.Thr70Ser
NM_005330.4:c.208A>T (HBE1) MANE Select	NP_005321.1:p.Thr70Ser