Canonical Allele Identifier: CA124566

Gene: HBG2

Linked Data

• ClinVar Variation Id: 14996
• ClinVar RCV Id: RCV000016136
• dbSNP Id: rs34878913
• MyVariant Identifiers: chr11:g.5275712A>G (hg19) ; chr11:g.5254482A>G (hg38)
• PubMed: PMID:7741137

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254482A>G , CM000673.2:g.5254482A>G	GRCh38
NC_000011.9:g.5275712A>G , CM000673.1:g.5275712A>G	GRCh37
NC_000011.8:g.5232288A>G	NCBI36
NG_000007.3:g.43134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.125T>C MANE Select	ENSP00000338082.4:p.Phe42Ser
ENST00000380252.6:c.-41T>C	ENSP00000369602.2:n.-41T>C
ENST00000380259.7:c.1671T>C	ENSP00000369609.3:n.1671T>C
ENST00000642908.1:c.125T>C	ENSP00000495346.1:p.Phe42Ser
ENST00000647543.1:c.125T>C	ENSP00000496470.1:p.Phe42Ser
ENST00000336906.4:c.125T>C	ENSP00000338082.4:p.Phe42Ser
ENST00000380252.5:c.95T>C	ENSP00000369602.1:p.Phe32Ser
ENST00000380259.6:c.125T>C	ENSP00000369609.2:p.Phe42Ser
ENST00000444587.1:c.87T>C	ENSP00000488218.1:p.Val29=
ENST00000620888.4:c.125T>C	ENSP00000479637.1:p.Phe42Ser
ENST00000624109.1:c.230A>G	ENSP00000485458.1:p.Glu77Gly
NM_000184.2:c.125T>C	NP_000175.1:p.Phe42Ser
NM_000184.3:c.125T>C MANE Select	NP_000175.1:p.Phe42Ser