Canonical Allele Identifier: CA2615995082

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193608-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193609dup , CM000673.2:g.112193609dup	GRCh38
NC_000011.9:g.112064332dup , CM000673.1:g.112064332dup	GRCh37
NC_000011.8:g.111569542dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357685.11:c.429dup MANE Select	ENSP00000350314.5:p.Glu144ArgfsTer16
ENST00000357685.9:c.429dup	ENSP00000350314.5:p.Glu144ArgfsTer16
ENST00000361053.8:c.429dup	ENSP00000354338.4:p.Glu144ArgfsTer16
ENST00000438022.5:c.327dup	ENSP00000414843.1:p.Glu110ArgfsTer16
ENST00000460924.6:n.521dup
ENST00000494860.5:n.281dup
ENST00000525468.1:n.418dup
ENST00000525987.5:n.772dup
ENST00000526088.5:c.327dup	ENSP00000436615.1:p.Glu110ArgfsTer16
ENST00000527939.1:c.*71dup	ENSP00000436956.1:n.*71dup
ENST00000530677.1:c.136dup
ENST00000531169.5:c.327dup	ENSP00000437053.1:p.Glu110ArgfsTer16
ENST00000532593.5:c.114dup	ENSP00000431802.1:p.Glu39ArgfsTer16
ENST00000532612.5:c.359dup
ENST00000534122.5:n.1044dup
ENST00000534550.5:c.*71dup	ENSP00000434488.1:n.*71dup
NM_001037290.2:c.327dup	NP_001032367.2:p.Glu110ArgfsTer16
NM_001256397.1:c.327dup	NP_001243326.1:p.Glu110ArgfsTer16
NM_001256398.1:c.429dup	NP_001243327.1:p.Glu144ArgfsTer16
NM_001256400.1:c.114dup	NP_001243329.1:p.Glu39ArgfsTer16
NM_031938.5:c.429dup	NP_114144.4:p.Glu144ArgfsTer16
NM_001037290.3:c.327dup	NP_001032367.3:p.Glu110ArgfsTer16
NM_001256397.2:c.327dup	NP_001243326.2:p.Glu110ArgfsTer16
NM_001256398.2:c.429dup	NP_001243327.2:p.Glu144ArgfsTer16
NM_001256400.2:c.114dup	NP_001243329.2:p.Glu39ArgfsTer16
NM_031938.7:c.429dup MANE Select	NP_114144.5:p.Glu144ArgfsTer16
NM_001037290.4:c.327dup	NP_001032367.3:p.Glu110ArgfsTer16
NM_001256397.3:c.327dup	NP_001243326.2:p.Glu110ArgfsTer16
NM_001256398.3:c.429dup	NP_001243327.2:p.Glu144ArgfsTer16
NM_001256400.3:c.114dup	NP_001243329.2:p.Glu39ArgfsTer16