Canonical Allele Identifier: CA472886078

Gene: HBG2

Linked Data

• dbSNP Id: rs1847993838
• gnomAD v4: 11-5254402-G-A
• MyVariant Identifiers: chr11:g.5275632G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254402G>A , CM000673.2:g.5254402G>A	GRCh38
NC_000011.9:g.5275632G>A , CM000673.1:g.5275632G>A	GRCh37
NC_000011.8:g.5232208G>A	NCBI36
NG_000007.3:g.43214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.205C>T MANE Select	ENSP00000338082.4:p.Leu69=
ENST00000380252.6:c.40C>T	ENSP00000369602.2:p.Leu14=
ENST00000380259.7:c.1751C>T	ENSP00000369609.3:n.1751C>T
ENST00000642908.1:c.205C>T	ENSP00000495346.1:p.Leu69=
ENST00000647543.1:c.205C>T	ENSP00000496470.1:p.Leu69=
ENST00000336906.4:c.205C>T	ENSP00000338082.4:p.Leu69=
ENST00000380252.5:c.175C>T	ENSP00000369602.1:p.Leu59=
ENST00000380259.6:c.205C>T	ENSP00000369609.2:p.Leu69=
ENST00000444587.1:c.*74C>T	ENSP00000488218.1:n.*74C>T
ENST00000620888.4:c.205C>T	ENSP00000479637.1:p.Leu69=
ENST00000624109.1:c.150G>A	ENSP00000485458.1:p.Gln50=
NM_000184.2:c.205C>T	NP_000175.1:p.Leu69=
NM_000184.3:c.205C>T MANE Select	NP_000175.1:p.Leu69=