Canonical Allele Identifier: CA677771331

Gene: HBG2

Linked Data

• dbSNP Id: rs1292642913
• gnomAD v3: 11-5254203-TCACA-T
• gnomAD v4: 11-5254203-TCACA-T
• MyVariant Identifiers: chr11:g.5275434_5275437del (hg19) ; chr11:g.5254204_5254207del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254205_5254208del , CM000673.2:g.5254205_5254208del	GRCh38
NC_000011.9:g.5275435_5275438del , CM000673.1:g.5275435_5275438del	GRCh37
NC_000011.8:g.5232011_5232014del	NCBI36
NG_000007.3:g.43409_43412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.315+85_315+88del MANE Select	ENSP00000338082.4:n.315+85_315+88del
ENST00000380252.6:c.150+85_150+88del	ENSP00000369602.2:n.150+85_150+88del
ENST00000642908.1:c.315+85_315+88del	ENSP00000495346.1:n.315+85_315+88del
ENST00000647543.1:c.315+85_315+88del	ENSP00000496470.1:n.315+85_315+88del
ENST00000336906.4:c.315+85_315+88del	ENSP00000338082.4:n.315+85_315+88del
ENST00000380252.5:c.285+85_285+88del	ENSP00000369602.1:n.285+85_285+88del
ENST00000380259.6:c.315+85_315+88del	ENSP00000369609.2:n.315+85_315+88del
ENST00000444587.1:c.*184+85_*184+88del	ENSP00000488218.1:n.*184+85_*184+88del
ENST00000620888.4:c.315+85_315+88del	ENSP00000479637.1:n.315+85_315+88del
ENST00000624109.1:c.43-90_43-87del	ENSP00000485458.1:n.43-90_43-87del
NM_000184.2:c.315+85_315+88del	NP_000175.1:n.315+85_315+88del
NM_000184.3:c.315+85_315+88del MANE Select	NP_000175.1:n.315+85_315+88del