Canonical Allele Identifier: CA379264641

Gene: HBG2

Linked Data

• dbSNP Id: rs1589909117
• gnomAD v3: 11-5254483-A-G
• gnomAD v4: 11-5254483-A-G
• MyVariant Identifiers: chr11:g.5275713A>G (hg19) ; chr11:g.5254483A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254483A>G , CM000673.2:g.5254483A>G	GRCh38
NC_000011.9:g.5275713A>G , CM000673.1:g.5275713A>G	GRCh37
NC_000011.8:g.5232289A>G	NCBI36
NG_000007.3:g.43133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.124T>C MANE Select	ENSP00000338082.4:p.Phe42Leu
ENST00000380252.6:c.-42T>C	ENSP00000369602.2:n.-42T>C
ENST00000380259.7:c.1670T>C	ENSP00000369609.3:n.1670T>C
ENST00000642908.1:c.124T>C	ENSP00000495346.1:p.Phe42Leu
ENST00000647543.1:c.124T>C	ENSP00000496470.1:p.Phe42Leu
ENST00000336906.4:c.124T>C	ENSP00000338082.4:p.Phe42Leu
ENST00000380252.5:c.94T>C	ENSP00000369602.1:p.Phe32Leu
ENST00000380259.6:c.124T>C	ENSP00000369609.2:p.Phe42Leu
ENST00000444587.1:c.86T>C	ENSP00000488218.1:p.Val29Ala
ENST00000620888.4:c.124T>C	ENSP00000479637.1:p.Phe42Leu
ENST00000624109.1:c.231A>G	ENSP00000485458.1:p.Glu77=
NM_000184.2:c.124T>C	NP_000175.1:p.Phe42Leu
NM_000184.3:c.124T>C MANE Select	NP_000175.1:p.Phe42Leu