Canonical Allele Identifier: CA382628523

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064334A>C (hg19) ; chr11:g.112193611A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193611A>C , CM000673.2:g.112193611A>C	GRCh38
NC_000011.9:g.112064334A>C , CM000673.1:g.112064334A>C	GRCh37
NC_000011.8:g.111569544A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357685.11:c.431A>C MANE Select	ENSP00000350314.5:p.Glu144Ala
ENST00000357685.9:c.431A>C	ENSP00000350314.5:p.Glu144Ala
ENST00000361053.8:c.431A>C	ENSP00000354338.4:p.Glu144Ala
ENST00000438022.5:c.329A>C	ENSP00000414843.1:p.Glu110Ala
ENST00000460924.6:n.523A>C
ENST00000494860.5:n.283A>C
ENST00000525468.1:n.420A>C
ENST00000525987.5:n.774A>C
ENST00000526088.5:c.329A>C	ENSP00000436615.1:p.Glu110Ala
ENST00000527939.1:c.*73A>C	ENSP00000436956.1:n.*73A>C
ENST00000530677.1:c.138A>C
ENST00000531169.5:c.329A>C	ENSP00000437053.1:p.Glu110Ala
ENST00000532593.5:c.116A>C	ENSP00000431802.1:p.Glu39Ala
ENST00000532612.5:c.361A>C
ENST00000534122.5:n.1046A>C
ENST00000534550.5:c.*73A>C	ENSP00000434488.1:n.*73A>C
NM_001037290.2:c.329A>C	NP_001032367.2:p.Glu110Ala
NM_001256397.1:c.329A>C	NP_001243326.1:p.Glu110Ala
NM_001256398.1:c.431A>C	NP_001243327.1:p.Glu144Ala
NM_001256400.1:c.116A>C	NP_001243329.1:p.Glu39Ala
NM_031938.5:c.431A>C	NP_114144.4:p.Glu144Ala
NM_001037290.3:c.329A>C	NP_001032367.3:p.Glu110Ala
NM_001256397.2:c.329A>C	NP_001243326.2:p.Glu110Ala
NM_001256398.2:c.431A>C	NP_001243327.2:p.Glu144Ala
NM_001256400.2:c.116A>C	NP_001243329.2:p.Glu39Ala
NM_031938.7:c.431A>C MANE Select	NP_114144.5:p.Glu144Ala
NM_001037290.4:c.329A>C	NP_001032367.3:p.Glu110Ala
NM_001256397.3:c.329A>C	NP_001243326.2:p.Glu110Ala
NM_001256398.3:c.431A>C	NP_001243327.2:p.Glu144Ala
NM_001256400.3:c.116A>C	NP_001243329.2:p.Glu39Ala