Canonical Allele Identifier: CA2000603932

Gene: BCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193911C= , CM000673.2:g.112193911C=	GRCh38
NC_000011.9:g.112064634C= , CM000673.1:g.112064634C=	GRCh37
NC_000011.8:g.111569844C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.550C= MANE Select	ENSP00000350314.5:p.Arg184=
ENST00000357685.9:c.550C=	ENSP00000350314.5:p.Arg184=
ENST00000361053.8:c.517+214C=	ENSP00000354338.4:n.517+214C=
ENST00000438022.5:c.448C=	ENSP00000414843.1:p.Arg150=
ENST00000460924.6:n.823C=
ENST00000494860.5:n.583C=
ENST00000526088.5:c.448C=	ENSP00000436615.1:p.Arg150=
ENST00000527939.1:c.*192C=	ENSP00000436956.1:n.*192C=
ENST00000530677.1:c.245C=
ENST00000531169.5:c.448C=	ENSP00000437053.1:p.Arg150=
ENST00000532593.5:c.235C=	ENSP00000431802.1:p.Arg79=
ENST00000532612.5:c.447+214C=
ENST00000534550.5:c.*159+214C=	ENSP00000434488.1:n.*159+214C=
NM_001037290.2:c.448C=	NP_001032367.2:p.Arg150=
NM_001256397.1:c.448C=	NP_001243326.1:p.Arg150=
NM_001256398.1:c.517+214C=	NP_001243327.1:n.517+214C=
NM_001256400.1:c.235C=	NP_001243329.1:p.Arg79=
NM_031938.5:c.550C=	NP_114144.4:p.Arg184=
NM_001037290.3:c.448C=	NP_001032367.3:p.Arg150=
NM_001256397.2:c.448C=	NP_001243326.2:p.Arg150=
NM_001256398.2:c.517+214C=	NP_001243327.2:n.517+214C=
NM_001256400.2:c.235C=	NP_001243329.2:p.Arg79=
NM_031938.7:c.550C= MANE Select	NP_114144.5:p.Arg184=
NM_001037290.4:c.448C=	NP_001032367.3:p.Arg150=
NM_001256397.3:c.448C=	NP_001243326.2:p.Arg150=
NM_001256398.3:c.517+214C=	NP_001243327.2:n.517+214C=
NM_001256400.3:c.235C=	NP_001243329.2:p.Arg79=