Canonical Allele Identifier: CA379263489

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5274524A>C (hg19) ; chr11:g.5253294A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5253294A>C , CM000673.2:g.5253294A>C	GRCh38
NC_000011.9:g.5274524A>C , CM000673.1:g.5274524A>C	GRCh37
NC_000011.8:g.5231100A>C	NCBI36
NG_000007.3:g.44322T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.427T>G MANE Select	ENSP00000338082.4:p.Ser143Ala
ENST00000380252.6:c.262T>G	ENSP00000369602.2:p.Ser88Ala
ENST00000642908.1:c.315+998T>G	ENSP00000495346.1:n.315+998T>G
ENST00000647543.1:c.378+49T>G	ENSP00000496470.1:n.378+49T>G
ENST00000336906.4:c.427T>G	ENSP00000338082.4:p.Ser143Ala
ENST00000380252.5:c.397T>G	ENSP00000369602.1:p.Ser133Ala
ENST00000380259.6:c.427T>G	ENSP00000369609.2:p.Ser143Ala
ENST00000620888.4:c.315+998T>G	ENSP00000479637.1:n.315+998T>G
NM_000184.2:c.427T>G	NP_000175.1:p.Ser143Ala
NM_000184.3:c.427T>G MANE Select	NP_000175.1:p.Ser143Ala