Canonical Allele Identifier: CA217121327

Gene: HBG2

Linked Data

• dbSNP Id: rs930022160
• gnomAD v3: 11-5254422-T-C
• gnomAD v4: 11-5254422-T-C
• MyVariant Identifiers: chr11:g.5275652T>C (hg19) ; chr11:g.5254422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254422T>C , CM000673.2:g.5254422T>C	GRCh38
NC_000011.9:g.5275652T>C , CM000673.1:g.5275652T>C	GRCh37
NC_000011.8:g.5232228T>C	NCBI36
NG_000007.3:g.43194A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.185A>G MANE Select	ENSP00000338082.4:p.Lys62Arg
ENST00000380252.6:c.20A>G	ENSP00000369602.2:p.Lys7Arg
ENST00000380259.7:c.1731A>G	ENSP00000369609.3:n.1731A>G
ENST00000642908.1:c.185A>G	ENSP00000495346.1:p.Lys62Arg
ENST00000647543.1:c.185A>G	ENSP00000496470.1:p.Lys62Arg
ENST00000336906.4:c.185A>G	ENSP00000338082.4:p.Lys62Arg
ENST00000380252.5:c.155A>G	ENSP00000369602.1:p.Lys52Arg
ENST00000380259.6:c.185A>G	ENSP00000369609.2:p.Lys62Arg
ENST00000444587.1:c.*54A>G	ENSP00000488218.1:n.*54A>G
ENST00000620888.4:c.185A>G	ENSP00000479637.1:p.Lys62Arg
ENST00000624109.1:c.170T>C	ENSP00000485458.1:p.Leu57Pro
NM_000184.2:c.185A>G	NP_000175.1:p.Lys62Arg
NM_000184.3:c.185A>G MANE Select	NP_000175.1:p.Lys62Arg