Canonical Allele Identifier: CA472886077

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275623A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254393A>G , CM000673.2:g.5254393A>G	GRCh38
NC_000011.9:g.5275623A>G , CM000673.1:g.5275623A>G	GRCh37
NC_000011.8:g.5232199A>G	NCBI36
NG_000007.3:g.43223T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.214T>C MANE Select	ENSP00000338082.4:p.Leu72=
ENST00000380252.6:c.49T>C	ENSP00000369602.2:p.Leu17=
ENST00000380259.7:c.1760T>C	ENSP00000369609.3:n.1760T>C
ENST00000642908.1:c.214T>C	ENSP00000495346.1:p.Leu72=
ENST00000647543.1:c.214T>C	ENSP00000496470.1:p.Leu72=
ENST00000336906.4:c.214T>C	ENSP00000338082.4:p.Leu72=
ENST00000380252.5:c.184T>C	ENSP00000369602.1:p.Leu62=
ENST00000380259.6:c.214T>C	ENSP00000369609.2:p.Leu72=
ENST00000444587.1:c.*83T>C	ENSP00000488218.1:n.*83T>C
ENST00000620888.4:c.214T>C	ENSP00000479637.1:p.Leu72=
ENST00000624109.1:c.141A>G	ENSP00000485458.1:p.Gln47=
NM_000184.2:c.214T>C	NP_000175.1:p.Leu72=
NM_000184.3:c.214T>C MANE Select	NP_000175.1:p.Leu72=