Canonical Allele Identifier: CA382628337

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064249A>G (hg19) ; chr11:g.112193526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193526A>G , CM000673.2:g.112193526A>G	GRCh38
NC_000011.9:g.112064249A>G , CM000673.1:g.112064249A>G	GRCh37
NC_000011.8:g.111569459A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.346A>G MANE Select	ENSP00000350314.5:p.Lys116Glu
ENST00000357685.9:c.346A>G	ENSP00000350314.5:p.Lys116Glu
ENST00000361053.8:c.346A>G	ENSP00000354338.4:p.Lys116Glu
ENST00000438022.5:c.244A>G	ENSP00000414843.1:p.Lys82Glu
ENST00000460924.6:n.438A>G
ENST00000494860.5:n.198A>G
ENST00000525468.1:n.335A>G
ENST00000525987.5:n.689A>G
ENST00000526088.5:c.244A>G	ENSP00000436615.1:p.Lys82Glu
ENST00000527939.1:c.141A>G	ENSP00000436956.1:p.Gln47=
ENST00000530677.1:c.53A>G
ENST00000531169.5:c.244A>G	ENSP00000437053.1:p.Lys82Glu
ENST00000532593.5:c.31A>G	ENSP00000431802.1:p.Lys11Glu
ENST00000532612.5:c.276A>G
ENST00000532699.1:c.*108A>G	ENSP00000456434.1:n.*108A>G
ENST00000534122.5:n.961A>G
ENST00000534550.5:c.141A>G	ENSP00000434488.1:p.Gln47=
NM_001037290.2:c.244A>G	NP_001032367.2:p.Lys82Glu
NM_001256397.1:c.244A>G	NP_001243326.1:p.Lys82Glu
NM_001256398.1:c.346A>G	NP_001243327.1:p.Lys116Glu
NM_001256400.1:c.31A>G	NP_001243329.1:p.Lys11Glu
NM_031938.5:c.346A>G	NP_114144.4:p.Lys116Glu
NM_001037290.3:c.244A>G	NP_001032367.3:p.Lys82Glu
NM_001256397.2:c.244A>G	NP_001243326.2:p.Lys82Glu
NM_001256398.2:c.346A>G	NP_001243327.2:p.Lys116Glu
NM_001256400.2:c.31A>G	NP_001243329.2:p.Lys11Glu
NM_031938.7:c.346A>G MANE Select	NP_114144.5:p.Lys116Glu
NM_001037290.4:c.244A>G	NP_001032367.3:p.Lys82Glu
NM_001256397.3:c.244A>G	NP_001243326.2:p.Lys82Glu
NM_001256398.3:c.346A>G	NP_001243327.2:p.Lys116Glu
NM_001256400.3:c.31A>G	NP_001243329.2:p.Lys11Glu