Canonical Allele Identifier: CA2574735735
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254233_5254236del , CM000673.2:g.5254233_5254236del GRCh38
NC_000011.9:g.5275463_5275466del , CM000673.1:g.5275463_5275466del GRCh37
NC_000011.8:g.5232039_5232042del NCBI36
NG_000007.3:g.43380_43383del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336906.6:c.315+56_315+59del MANE Select ENSP00000338082.4:n.315+56_315+59del
ENST00000380252.6:c.150+56_150+59del ENSP00000369602.2:n.150+56_150+59del
ENST00000642908.1:c.315+56_315+59del ENSP00000495346.1:n.315+56_315+59del
ENST00000647543.1:c.315+56_315+59del ENSP00000496470.1:n.315+56_315+59del
ENST00000336906.4:c.315+56_315+59del ENSP00000338082.4:n.315+56_315+59del
ENST00000380252.5:c.285+56_285+59del ENSP00000369602.1:n.285+56_285+59del
ENST00000380259.6:c.315+56_315+59del ENSP00000369609.2:n.315+56_315+59del
ENST00000444587.1:c.*184+56_*184+59del ENSP00000488218.1:n.*184+56_*184+59del
ENST00000620888.4:c.315+56_315+59del ENSP00000479637.1:n.315+56_315+59del
ENST00000624109.1:c.43-62_43-59del ENSP00000485458.1:n.43-62_43-59del
NM_000184.2:c.315+56_315+59del NP_000175.1:n.315+56_315+59del
NM_000184.3:c.315+56_315+59del MANE Select NP_000175.1:n.315+56_315+59del