Canonical Allele Identifier: CA382628595
Gene: BCO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193644A>G , CM000673.2:g.112193644A>G GRCh38
NC_000011.9:g.112064367A>G , CM000673.1:g.112064367A>G GRCh37
NC_000011.8:g.111569577A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357685.11:c.464A>G MANE Select ENSP00000350314.5:p.Lys155Arg
ENST00000357685.9:c.464A>G ENSP00000350314.5:p.Lys155Arg
ENST00000361053.8:c.464A>G ENSP00000354338.4:p.Lys155Arg
ENST00000438022.5:c.362A>G ENSP00000414843.1:p.Lys121Arg
ENST00000460924.6:n.556A>G
ENST00000494860.5:n.316A>G
ENST00000525987.5:n.807A>G
ENST00000526088.5:c.362A>G ENSP00000436615.1:p.Lys121Arg
ENST00000527939.1:c.*106A>G ENSP00000436956.1:n.*106A>G
ENST00000530677.1:c.171A>G
ENST00000531169.5:c.362A>G ENSP00000437053.1:p.Lys121Arg
ENST00000532593.5:c.149A>G ENSP00000431802.1:p.Lys50Arg
ENST00000532612.5:c.394A>G
ENST00000534122.5:n.1079A>G
ENST00000534550.5:c.*106A>G ENSP00000434488.1:n.*106A>G
NM_001037290.2:c.362A>G NP_001032367.2:p.Lys121Arg
NM_001256397.1:c.362A>G NP_001243326.1:p.Lys121Arg
NM_001256398.1:c.464A>G NP_001243327.1:p.Lys155Arg
NM_001256400.1:c.149A>G NP_001243329.1:p.Lys50Arg
NM_031938.5:c.464A>G NP_114144.4:p.Lys155Arg
NM_001037290.3:c.362A>G NP_001032367.3:p.Lys121Arg
NM_001256397.2:c.362A>G NP_001243326.2:p.Lys121Arg
NM_001256398.2:c.464A>G NP_001243327.2:p.Lys155Arg
NM_001256400.2:c.149A>G NP_001243329.2:p.Lys50Arg
NM_031938.7:c.464A>G MANE Select NP_114144.5:p.Lys155Arg
NM_001037290.4:c.362A>G NP_001032367.3:p.Lys121Arg
NM_001256397.3:c.362A>G NP_001243326.2:p.Lys121Arg
NM_001256398.3:c.464A>G NP_001243327.2:p.Lys155Arg
NM_001256400.3:c.149A>G NP_001243329.2:p.Lys50Arg