Canonical Allele Identifier: CA379264329

Gene: HBG2

Linked Data

• dbSNP Id: rs1182604197
• gnomAD v3: 11-5254389-C-T
• gnomAD v4: 11-5254389-C-T
• COSMIC: COSM232469
• MyVariant Identifiers: chr11:g.5275619C>T (hg19) ; chr11:g.5254389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254389C>T , CM000673.2:g.5254389C>T	GRCh38
NC_000011.9:g.5275619C>T , CM000673.1:g.5275619C>T	GRCh37
NC_000011.8:g.5232195C>T	NCBI36
NG_000007.3:g.43227G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336906.6:c.218G>A MANE Select	ENSP00000338082.4:p.Gly73Glu
ENST00000380252.6:c.53G>A	ENSP00000369602.2:p.Gly18Glu
ENST00000642908.1:c.218G>A	ENSP00000495346.1:p.Gly73Glu
ENST00000647543.1:c.218G>A	ENSP00000496470.1:p.Gly73Glu
ENST00000336906.4:c.218G>A	ENSP00000338082.4:p.Gly73Glu
ENST00000380252.5:c.188G>A	ENSP00000369602.1:p.Gly63Glu
ENST00000380259.6:c.218G>A	ENSP00000369609.2:p.Gly73Glu
ENST00000444587.1:c.*87G>A	ENSP00000488218.1:n.*87G>A
ENST00000620888.4:c.218G>A	ENSP00000479637.1:p.Gly73Glu
ENST00000624109.1:c.137C>T	ENSP00000485458.1:p.Ser46Phe
NM_000184.2:c.218G>A	NP_000175.1:p.Gly73Glu
NM_000184.3:c.218G>A MANE Select	NP_000175.1:p.Gly73Glu