Canonical Allele Identifier: CA2000603832

Gene: BCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193663C= , CM000673.2:g.112193663C=	GRCh38
NC_000011.9:g.112064386C= , CM000673.1:g.112064386C=	GRCh37
NC_000011.8:g.111569596C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.483C= MANE Select	ENSP00000350314.5:p.Phe161=
ENST00000357685.9:c.483C=	ENSP00000350314.5:p.Phe161=
ENST00000361053.8:c.483C=	ENSP00000354338.4:p.Phe161=
ENST00000438022.5:c.381C=	ENSP00000414843.1:p.Phe127=
ENST00000460924.6:n.575C=
ENST00000494860.5:n.335C=
ENST00000525987.5:n.826C=
ENST00000526088.5:c.381C=	ENSP00000436615.1:p.Phe127=
ENST00000527939.1:c.*125C=	ENSP00000436956.1:n.*125C=
ENST00000530677.1:c.190C=
ENST00000531169.5:c.381C=	ENSP00000437053.1:p.Phe127=
ENST00000532593.5:c.168C=	ENSP00000431802.1:p.Phe56=
ENST00000532612.5:c.413C=
ENST00000534122.5:n.1098C=
ENST00000534550.5:c.*125C=	ENSP00000434488.1:n.*125C=
NM_001037290.2:c.381C=	NP_001032367.2:p.Phe127=
NM_001256397.1:c.381C=	NP_001243326.1:p.Phe127=
NM_001256398.1:c.483C=	NP_001243327.1:p.Phe161=
NM_001256400.1:c.168C=	NP_001243329.1:p.Phe56=
NM_031938.5:c.483C=	NP_114144.4:p.Phe161=
NM_001037290.3:c.381C=	NP_001032367.3:p.Phe127=
NM_001256397.2:c.381C=	NP_001243326.2:p.Phe127=
NM_001256398.2:c.483C=	NP_001243327.2:p.Phe161=
NM_001256400.2:c.168C=	NP_001243329.2:p.Phe56=
NM_031938.7:c.483C= MANE Select	NP_114144.5:p.Phe161=
NM_001037290.4:c.381C=	NP_001032367.3:p.Phe127=
NM_001256397.3:c.381C=	NP_001243326.2:p.Phe127=
NM_001256398.3:c.483C=	NP_001243327.2:p.Phe161=
NM_001256400.3:c.168C=	NP_001243329.2:p.Phe56=