Canonical Allele Identifier: CA476802945
Gene: BCO2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.112064636G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193913G>A , CM000673.2:g.112193913G>A GRCh38
NC_000011.9:g.112064636G>A , CM000673.1:g.112064636G>A GRCh37
NC_000011.8:g.111569846G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357685.11:c.552G>A MANE Select ENSP00000350314.5:p.Arg184=
ENST00000357685.9:c.552G>A ENSP00000350314.5:p.Arg184=
ENST00000361053.8:c.517+216G>A ENSP00000354338.4:n.517+216G>A
ENST00000438022.5:c.450G>A ENSP00000414843.1:p.Arg150=
ENST00000460924.6:n.825G>A
ENST00000494860.5:n.585G>A
ENST00000526088.5:c.450G>A ENSP00000436615.1:p.Arg150=
ENST00000527939.1:c.*194G>A ENSP00000436956.1:n.*194G>A
ENST00000530677.1:c.247G>A
ENST00000531169.5:c.450G>A ENSP00000437053.1:p.Arg150=
ENST00000532593.5:c.237G>A ENSP00000431802.1:p.Arg79=
ENST00000532612.5:c.447+216G>A
ENST00000534550.5:c.*159+216G>A ENSP00000434488.1:n.*159+216G>A
NM_001037290.2:c.450G>A NP_001032367.2:p.Arg150=
NM_001256397.1:c.450G>A NP_001243326.1:p.Arg150=
NM_001256398.1:c.517+216G>A NP_001243327.1:n.517+216G>A
NM_001256400.1:c.237G>A NP_001243329.1:p.Arg79=
NM_031938.5:c.552G>A NP_114144.4:p.Arg184=
NM_001037290.3:c.450G>A NP_001032367.3:p.Arg150=
NM_001256397.2:c.450G>A NP_001243326.2:p.Arg150=
NM_001256398.2:c.517+216G>A NP_001243327.2:n.517+216G>A
NM_001256400.2:c.237G>A NP_001243329.2:p.Arg79=
NM_031938.7:c.552G>A MANE Select NP_114144.5:p.Arg184=
NM_001037290.4:c.450G>A NP_001032367.3:p.Arg150=
NM_001256397.3:c.450G>A NP_001243326.2:p.Arg150=
NM_001256398.3:c.517+216G>A NP_001243327.2:n.517+216G>A
NM_001256400.3:c.237G>A NP_001243329.2:p.Arg79=