Canonical Allele Identifier: CA1949577445
Community Standard Title: NM_000184.3(HBG2):c.199A= (p.Lys67=)
Gene: HBG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254408T= , CM000673.2:g.5254408T= GRCh38
NC_000011.9:g.5275638T= , CM000673.1:g.5275638T= GRCh37
NC_000011.8:g.5232214T= NCBI36
NG_000007.3:g.43208A=

Transcript Alleles

HGVS Amino-acid Change
NM_000184.3:c.199A= MANE Select NP_000175.1:p.Lys67=
ENST00000336906.6:c.199A= MANE Select ENSP00000338082.4:p.Lys67=
NM_000184.2:c.199A= NP_000175.1:p.Lys67=
ENST00000336906.4:c.199A= ENSP00000338082.4:p.Lys67=
ENST00000380252.5:c.169A= ENSP00000369602.1:p.Lys57=
ENST00000380252.6:c.34A= ENSP00000369602.2:p.Lys12=
ENST00000380259.6:c.199A= ENSP00000369609.2:p.Lys67=
ENST00000380259.7:c.1745A= ENSP00000369609.3:n.1745A=
ENST00000444587.1:c.*68A= ENSP00000488218.1:n.*68A=
ENST00000620888.4:c.199A= ENSP00000479637.1:p.Lys67=
ENST00000624109.1:c.156T= ENSP00000485458.1:p.Leu52=
ENST00000642908.1:c.199A= ENSP00000495346.1:p.Lys67=
ENST00000647543.1:c.199A= ENSP00000496470.1:p.Lys67=