Canonical Allele Identifier: CA379264309

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254383-G-A
• COSMIC: COSM1209333
• MyVariant Identifiers: chr11:g.5275613G>A (hg19) ; chr11:g.5254383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254383G>A , CM000673.2:g.5254383G>A	GRCh38
NC_000011.9:g.5275613G>A , CM000673.1:g.5275613G>A	GRCh37
NC_000011.8:g.5232189G>A	NCBI36
NG_000007.3:g.43233C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.224C>T MANE Select	ENSP00000338082.4:p.Ala75Val
ENST00000380252.6:c.59C>T	ENSP00000369602.2:p.Ala20Val
ENST00000642908.1:c.224C>T	ENSP00000495346.1:p.Ala75Val
ENST00000647543.1:c.224C>T	ENSP00000496470.1:p.Ala75Val
ENST00000336906.4:c.224C>T	ENSP00000338082.4:p.Ala75Val
ENST00000380252.5:c.194C>T	ENSP00000369602.1:p.Ala65Val
ENST00000380259.6:c.224C>T	ENSP00000369609.2:p.Ala75Val
ENST00000444587.1:c.*93C>T	ENSP00000488218.1:n.*93C>T
ENST00000620888.4:c.224C>T	ENSP00000479637.1:p.Ala75Val
ENST00000624109.1:c.131G>A	ENSP00000485458.1:p.Gly44Asp
NM_000184.2:c.224C>T	NP_000175.1:p.Ala75Val
NM_000184.3:c.224C>T MANE Select	NP_000175.1:p.Ala75Val