Canonical Allele Identifier: CA382628306

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064235A>T (hg19) ; chr11:g.112193512A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193512A>T , CM000673.2:g.112193512A>T	GRCh38
NC_000011.9:g.112064235A>T , CM000673.1:g.112064235A>T	GRCh37
NC_000011.8:g.111569445A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.332A>T MANE Select	ENSP00000350314.5:p.Gln111Leu
ENST00000357685.9:c.332A>T	ENSP00000350314.5:p.Gln111Leu
ENST00000361053.8:c.332A>T	ENSP00000354338.4:p.Gln111Leu
ENST00000438022.5:c.230A>T	ENSP00000414843.1:p.Gln77Leu
ENST00000460924.6:n.424A>T
ENST00000494860.5:n.184A>T
ENST00000525468.1:n.321A>T
ENST00000525987.5:n.675A>T
ENST00000526088.5:c.230A>T	ENSP00000436615.1:p.Gln77Leu
ENST00000527939.1:c.127A>T	ENSP00000436956.1:p.Ser43Cys
ENST00000530677.1:c.39A>T
ENST00000531003.1:c.*122A>T	ENSP00000435869.1:n.*122A>T
ENST00000531169.5:c.230A>T	ENSP00000437053.1:p.Gln77Leu
ENST00000532593.5:c.17A>T	ENSP00000431802.1:p.Gln6Leu
ENST00000532612.5:c.262A>T
ENST00000532699.1:c.*94A>T	ENSP00000456434.1:n.*94A>T
ENST00000534122.5:n.947A>T
ENST00000534550.5:c.127A>T	ENSP00000434488.1:p.Ser43Cys
NM_001037290.2:c.230A>T	NP_001032367.2:p.Gln77Leu
NM_001256397.1:c.230A>T	NP_001243326.1:p.Gln77Leu
NM_001256398.1:c.332A>T	NP_001243327.1:p.Gln111Leu
NM_001256400.1:c.17A>T	NP_001243329.1:p.Gln6Leu
NM_031938.5:c.332A>T	NP_114144.4:p.Gln111Leu
NM_001037290.3:c.230A>T	NP_001032367.3:p.Gln77Leu
NM_001256397.2:c.230A>T	NP_001243326.2:p.Gln77Leu
NM_001256398.2:c.332A>T	NP_001243327.2:p.Gln111Leu
NM_001256400.2:c.17A>T	NP_001243329.2:p.Gln6Leu
NM_031938.7:c.332A>T MANE Select	NP_114144.5:p.Gln111Leu
NM_001037290.4:c.230A>T	NP_001032367.3:p.Gln77Leu
NM_001256397.3:c.230A>T	NP_001243326.2:p.Gln77Leu
NM_001256398.3:c.332A>T	NP_001243327.2:p.Gln111Leu
NM_001256400.3:c.17A>T	NP_001243329.2:p.Gln6Leu