Canonical Allele Identifier: CA472633094

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274522G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253292G>C , CM000673.2:g.5253292G>C	GRCh38
NC_000011.9:g.5274522G>C , CM000673.1:g.5274522G>C	GRCh37
NC_000011.8:g.5231098G>C	NCBI36
NG_000007.3:g.44324C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.429C>G MANE Select	ENSP00000338082.4:p.Ser143=
ENST00000380252.6:c.264C>G	ENSP00000369602.2:p.Ser88=
ENST00000642908.1:c.315+1000C>G	ENSP00000495346.1:n.315+1000C>G
ENST00000647543.1:c.378+51C>G	ENSP00000496470.1:n.378+51C>G
ENST00000336906.4:c.429C>G	ENSP00000338082.4:p.Ser143=
ENST00000380252.5:c.399C>G	ENSP00000369602.1:p.Ser133=
ENST00000380259.6:c.429C>G	ENSP00000369609.2:p.Ser143=
ENST00000620888.4:c.315+1000C>G	ENSP00000479637.1:n.315+1000C>G
NM_000184.2:c.429C>G	NP_000175.1:p.Ser143=
NM_000184.3:c.429C>G MANE Select	NP_000175.1:p.Ser143=