Canonical Allele Identifier: CA3020033592
Community Standard Title: NM_000184.3(HBG2):c.315+8del
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254285del , CM000673.2:g.5254285del GRCh38
NC_000011.9:g.5275515del , CM000673.1:g.5275515del GRCh37
NC_000011.8:g.5232091del NCBI36
NG_000007.3:g.43332del

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.315+8del MANE Select NP_000175.1:n.315+8del
ENST00000336906.6:c.315+8del MANE Select ENSP00000338082.4:n.315+8del
NM_000184.2:c.315+8del NP_000175.1:n.315+8del
ENST00000336906.4:c.315+8del ENSP00000338082.4:n.315+8del
ENST00000380252.5:c.285+8del ENSP00000369602.1:n.285+8del
ENST00000380252.6:c.150+8del ENSP00000369602.2:n.150+8del
ENST00000380259.6:c.315+8del ENSP00000369609.2:n.315+8del
ENST00000444587.1:c.*184+8del ENSP00000488218.1:n.*184+8del
ENST00000620888.4:c.315+8del ENSP00000479637.1:n.315+8del
ENST00000624109.1:c.43-10del ENSP00000485458.1:n.43-10del
ENST00000642908.1:c.315+8del ENSP00000495346.1:n.315+8del
ENST00000647543.1:c.315+8del ENSP00000496470.1:n.315+8del