Canonical Allele Identifier: CA477042018
Gene: BCO2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.112064344A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193621A>G , CM000673.2:g.112193621A>G GRCh38
NC_000011.9:g.112064344A>G , CM000673.1:g.112064344A>G GRCh37
NC_000011.8:g.111569554A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357685.11:c.441A>G MANE Select ENSP00000350314.5:p.Thr147=
ENST00000357685.9:c.441A>G ENSP00000350314.5:p.Thr147=
ENST00000361053.8:c.441A>G ENSP00000354338.4:p.Thr147=
ENST00000438022.5:c.339A>G ENSP00000414843.1:p.Thr113=
ENST00000460924.6:n.533A>G
ENST00000494860.5:n.293A>G
ENST00000525468.1:n.430A>G
ENST00000525987.5:n.784A>G
ENST00000526088.5:c.339A>G ENSP00000436615.1:p.Thr113=
ENST00000527939.1:c.*83A>G ENSP00000436956.1:n.*83A>G
ENST00000530677.1:c.148A>G
ENST00000531169.5:c.339A>G ENSP00000437053.1:p.Thr113=
ENST00000532593.5:c.126A>G ENSP00000431802.1:p.Thr42=
ENST00000532612.5:c.371A>G
ENST00000534122.5:n.1056A>G
ENST00000534550.5:c.*83A>G ENSP00000434488.1:n.*83A>G
NM_001037290.2:c.339A>G NP_001032367.2:p.Thr113=
NM_001256397.1:c.339A>G NP_001243326.1:p.Thr113=
NM_001256398.1:c.441A>G NP_001243327.1:p.Thr147=
NM_001256400.1:c.126A>G NP_001243329.1:p.Thr42=
NM_031938.5:c.441A>G NP_114144.4:p.Thr147=
NM_001037290.3:c.339A>G NP_001032367.3:p.Thr113=
NM_001256397.2:c.339A>G NP_001243326.2:p.Thr113=
NM_001256398.2:c.441A>G NP_001243327.2:p.Thr147=
NM_001256400.2:c.126A>G NP_001243329.2:p.Thr42=
NM_031938.7:c.441A>G MANE Select NP_114144.5:p.Thr147=
NM_001037290.4:c.339A>G NP_001032367.3:p.Thr113=
NM_001256397.3:c.339A>G NP_001243326.2:p.Thr113=
NM_001256398.3:c.441A>G NP_001243327.2:p.Thr147=
NM_001256400.3:c.126A>G NP_001243329.2:p.Thr42=