Canonical Allele Identifier: CA379265378

Gene: HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5275936T>C (hg19) ; chr11:g.5254706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254706T>C , CM000673.2:g.5254706T>C	GRCh38
NC_000011.9:g.5275936T>C , CM000673.1:g.5275936T>C	GRCh37
NC_000011.8:g.5232512T>C	NCBI36
NG_000007.3:g.42910A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.23A>G MANE Select	ENSP00000338082.4:p.Asp8Gly
ENST00000380252.6:c.-73-192A>G	ENSP00000369602.2:n.-73-192A>G
ENST00000380259.7:c.1569A>G	ENSP00000369609.3:n.1569A>G
ENST00000642908.1:c.23A>G	ENSP00000495346.1:p.Asp8Gly
ENST00000647543.1:c.23A>G	ENSP00000496470.1:p.Asp8Gly
ENST00000336906.4:c.23A>G	ENSP00000338082.4:p.Asp8Gly
ENST00000380252.5:c.63-192A>G	ENSP00000369602.1:n.63-192A>G
ENST00000380259.6:c.23A>G	ENSP00000369609.2:p.Asp8Gly
ENST00000444587.1:c.23A>G	ENSP00000488218.1:p.Asp8Gly
ENST00000620888.4:c.23A>G	ENSP00000479637.1:p.Asp8Gly
ENST00000624109.1:c.335T>C	ENSP00000485458.1:p.Val112Ala
NM_000184.2:c.23A>G	NP_000175.1:p.Asp8Gly
NM_000184.3:c.23A>G MANE Select	NP_000175.1:p.Asp8Gly