Canonical Allele Identifier: CA477041822

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064227G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193504G>C , CM000673.2:g.112193504G>C	GRCh38
NC_000011.9:g.112064227G>C , CM000673.1:g.112064227G>C	GRCh37
NC_000011.8:g.111569437G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.324G>C MANE Select	ENSP00000350314.5:p.Leu108=
ENST00000357685.9:c.324G>C	ENSP00000350314.5:p.Leu108=
ENST00000361053.8:c.324G>C	ENSP00000354338.4:p.Leu108=
ENST00000438022.5:c.222G>C	ENSP00000414843.1:p.Leu74=
ENST00000460924.6:n.416G>C
ENST00000494860.5:n.176G>C
ENST00000525468.1:n.313G>C
ENST00000525987.5:n.667G>C
ENST00000526088.5:c.222G>C	ENSP00000436615.1:p.Leu74=
ENST00000527939.1:c.119G>C	ENSP00000436956.1:p.Cys40Ser
ENST00000530677.1:c.31G>C
ENST00000531003.1:c.*114G>C	ENSP00000435869.1:n.*114G>C
ENST00000531169.5:c.222G>C	ENSP00000437053.1:p.Leu74=
ENST00000532593.5:c.9G>C	ENSP00000431802.1:p.Leu3=
ENST00000532612.5:c.254G>C
ENST00000532699.1:c.*86G>C	ENSP00000456434.1:n.*86G>C
ENST00000534122.5:n.939G>C
ENST00000534550.5:c.119G>C	ENSP00000434488.1:p.Cys40Ser
NM_001037290.2:c.222G>C	NP_001032367.2:p.Leu74=
NM_001256397.1:c.222G>C	NP_001243326.1:p.Leu74=
NM_001256398.1:c.324G>C	NP_001243327.1:p.Leu108=
NM_001256400.1:c.9G>C	NP_001243329.1:p.Leu3=
NM_031938.5:c.324G>C	NP_114144.4:p.Leu108=
NM_001037290.3:c.222G>C	NP_001032367.3:p.Leu74=
NM_001256397.2:c.222G>C	NP_001243326.2:p.Leu74=
NM_001256398.2:c.324G>C	NP_001243327.2:p.Leu108=
NM_001256400.2:c.9G>C	NP_001243329.2:p.Leu3=
NM_031938.7:c.324G>C MANE Select	NP_114144.5:p.Leu108=
NM_001037290.4:c.222G>C	NP_001032367.3:p.Leu74=
NM_001256397.3:c.222G>C	NP_001243326.2:p.Leu74=
NM_001256398.3:c.324G>C	NP_001243327.2:p.Leu108=
NM_001256400.3:c.9G>C	NP_001243329.2:p.Leu3=