Canonical Allele Identifier: CA934697659

Gene: HBG2

Linked Data

• dbSNP Id: rs1847995328
• gnomAD v3: 11-5254480-AG-A
• gnomAD v4: 11-5254480-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254481del , CM000673.2:g.5254481del	GRCh38
NC_000011.9:g.5275711del , CM000673.1:g.5275711del	GRCh37
NC_000011.8:g.5232287del	NCBI36
NG_000007.3:g.43135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.126del MANE Select	ENSP00000338082.4:p.Phe43LeufsTer27
ENST00000380252.6:c.-40del	ENSP00000369602.2:n.-40del
ENST00000380259.7:c.1672del	ENSP00000369609.3:n.1672del
ENST00000642908.1:c.126del	ENSP00000495346.1:p.Phe43LeufsTer27
ENST00000647543.1:c.126del	ENSP00000496470.1:p.Phe43LeufsTer27
ENST00000336906.4:c.126del	ENSP00000338082.4:p.Phe43LeufsTer27
ENST00000380252.5:c.96del	ENSP00000369602.1:p.Phe33LeufsTer27
ENST00000380259.6:c.126del	ENSP00000369609.2:p.Phe43LeufsTer27
ENST00000444587.1:c.88del	ENSP00000488218.1:p.Leu30PhefsTer?
ENST00000620888.4:c.126del	ENSP00000479637.1:p.Phe43LeufsTer27
ENST00000624109.1:c.229del	ENSP00000485458.1:p.Glu77AsnfsTer7
NM_000184.2:c.126del	NP_000175.1:p.Phe43LeufsTer27
NM_000184.3:c.126del MANE Select	NP_000175.1:p.Phe43LeufsTer27