Canonical Allele Identifier: CA5840276

Gene: HBG2

Linked Data

• dbSNP Id: rs778063322
• ExAC: 11:5275743 G / A
• gnomAD v2: 11-5275743-G-A
• gnomAD v3: 11-5254513-G-A
• gnomAD v4: 11-5254513-G-A
• MyVariant Identifiers: chr11:g.5275743G>A (hg19) ; chr11:g.5254513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254513G>A , CM000673.2:g.5254513G>A	GRCh38
NC_000011.9:g.5275743G>A , CM000673.1:g.5275743G>A	GRCh37
NC_000011.8:g.5232319G>A	NCBI36
NG_000007.3:g.43103C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.94C>T MANE Select	ENSP00000338082.4:p.Leu32Phe
ENST00000380252.6:c.-72C>T	ENSP00000369602.2:n.-72C>T
ENST00000380259.7:c.1640C>T	ENSP00000369609.3:n.1640C>T
ENST00000642908.1:c.94C>T	ENSP00000495346.1:p.Leu32Phe
ENST00000647543.1:c.94C>T	ENSP00000496470.1:p.Leu32Phe
ENST00000336906.4:c.94C>T	ENSP00000338082.4:p.Leu32Phe
ENST00000380252.5:c.64C>T	ENSP00000369602.1:p.Leu22Phe
ENST00000380259.6:c.94C>T	ENSP00000369609.2:p.Leu32Phe
ENST00000444587.1:c.56C>T	ENSP00000488218.1:p.Ala19Val
ENST00000620888.4:c.94C>T	ENSP00000479637.1:p.Leu32Phe
ENST00000624109.1:c.261G>A	ENSP00000485458.1:p.Glu87=
NM_000184.2:c.94C>T	NP_000175.1:p.Leu32Phe
NM_000184.3:c.94C>T MANE Select	NP_000175.1:p.Leu32Phe