Canonical Allele Identifier: CA379264209

Gene: HBG2

Linked Data

• dbSNP Id: rs1479458338
• gnomAD v2: 11-5275574-T-G
• gnomAD v4: 11-5254344-T-G
• MyVariant Identifiers: chr11:g.5275574T>G (hg19) ; chr11:g.5254344T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254344T>G , CM000673.2:g.5254344T>G	GRCh38
NC_000011.9:g.5275574T>G , CM000673.1:g.5275574T>G	GRCh37
NC_000011.8:g.5232150T>G	NCBI36
NG_000007.3:g.43272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.263A>C MANE Select	ENSP00000338082.4:p.Gln88Pro
ENST00000380252.6:c.98A>C	ENSP00000369602.2:p.Gln33Pro
ENST00000642908.1:c.263A>C	ENSP00000495346.1:p.Gln88Pro
ENST00000647543.1:c.263A>C	ENSP00000496470.1:p.Gln88Pro
ENST00000336906.4:c.263A>C	ENSP00000338082.4:p.Gln88Pro
ENST00000380252.5:c.233A>C	ENSP00000369602.1:p.Gln78Pro
ENST00000380259.6:c.263A>C	ENSP00000369609.2:p.Gln88Pro
ENST00000444587.1:c.*132A>C	ENSP00000488218.1:n.*132A>C
ENST00000620888.4:c.263A>C	ENSP00000479637.1:p.Gln88Pro
ENST00000624109.1:c.92T>G	ENSP00000485458.1:p.Leu31Arg
NM_000184.2:c.263A>C	NP_000175.1:p.Gln88Pro
NM_000184.3:c.263A>C MANE Select	NP_000175.1:p.Gln88Pro