Canonical Allele Identifier: CA124516

Gene: HBG2

Linked Data

• ClinVar Variation Id: 14968
• ClinVar RCV Id: RCV000016108
• dbSNP Id: rs34017450
• MyVariant Identifiers: chr11:g.5275704T>G (hg19) ; chr11:g.5254474T>G (hg38)
• PubMed: PMID:1726098 ; PMID:6814491

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254474T>G , CM000673.2:g.5254474T>G	GRCh38
NC_000011.9:g.5275704T>G , CM000673.1:g.5275704T>G	GRCh37
NC_000011.8:g.5232280T>G	NCBI36
NG_000007.3:g.43142A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.133A>C MANE Select	ENSP00000338082.4:p.Ser45Arg
ENST00000380252.6:c.-33A>C	ENSP00000369602.2:n.-33A>C
ENST00000380259.7:c.1679A>C	ENSP00000369609.3:n.1679A>C
ENST00000642908.1:c.133A>C	ENSP00000495346.1:p.Ser45Arg
ENST00000647543.1:c.133A>C	ENSP00000496470.1:p.Ser45Arg
ENST00000336906.4:c.133A>C	ENSP00000338082.4:p.Ser45Arg
ENST00000380252.5:c.103A>C	ENSP00000369602.1:p.Ser35Arg
ENST00000380259.6:c.133A>C	ENSP00000369609.2:p.Ser45Arg
ENST00000444587.1:c.*2A>C	ENSP00000488218.1:n.*2A>C
ENST00000620888.4:c.133A>C	ENSP00000479637.1:p.Ser45Arg
ENST00000624109.1:c.222T>G	ENSP00000485458.1:p.Ala74=
NM_000184.2:c.133A>C	NP_000175.1:p.Ser45Arg
NM_000184.3:c.133A>C MANE Select	NP_000175.1:p.Ser45Arg