Canonical Allele Identifier: CA5840264

Gene: HBG2

Linked Data

• dbSNP Id: rs34363111
• ExAC: 11:5275611 T / C
• gnomAD v2: 11-5275611-T-C
• gnomAD v3: 11-5254381-T-C
• gnomAD v4: 11-5254381-T-C
• MyVariant Identifiers: chr11:g.5275611T>C (hg19) ; chr11:g.5254381T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254381T>C , CM000673.2:g.5254381T>C	GRCh38
NC_000011.9:g.5275611T>C , CM000673.1:g.5275611T>C	GRCh37
NC_000011.8:g.5232187T>C	NCBI36
NG_000007.3:g.43235A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.226A>G MANE Select	ENSP00000338082.4:p.Ile76Val
ENST00000380252.6:c.61A>G	ENSP00000369602.2:p.Ile21Val
ENST00000642908.1:c.226A>G	ENSP00000495346.1:p.Ile76Val
ENST00000647543.1:c.226A>G	ENSP00000496470.1:p.Ile76Val
ENST00000336906.4:c.226A>G	ENSP00000338082.4:p.Ile76Val
ENST00000380252.5:c.196A>G	ENSP00000369602.1:p.Ile66Val
ENST00000380259.6:c.226A>G	ENSP00000369609.2:p.Ile76Val
ENST00000444587.1:c.*95A>G	ENSP00000488218.1:n.*95A>G
ENST00000620888.4:c.226A>G	ENSP00000479637.1:p.Ile76Val
ENST00000624109.1:c.129T>C	ENSP00000485458.1:p.Tyr43=
NM_000184.2:c.226A>G	NP_000175.1:p.Ile76Val
NM_000184.3:c.226A>G MANE Select	NP_000175.1:p.Ile76Val