Canonical Allele Identifier: CA382628409
Gene: BCO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112193559C>A , CM000673.2:g.112193559C>A GRCh38
NC_000011.9:g.112064282C>A , CM000673.1:g.112064282C>A GRCh37
NC_000011.8:g.111569492C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357685.11:c.379C>A MANE Select ENSP00000350314.5:p.Gln127Lys
ENST00000357685.9:c.379C>A ENSP00000350314.5:p.Gln127Lys
ENST00000361053.8:c.379C>A ENSP00000354338.4:p.Gln127Lys
ENST00000438022.5:c.277C>A ENSP00000414843.1:p.Gln93Lys
ENST00000460924.6:n.471C>A
ENST00000494860.5:n.231C>A
ENST00000525468.1:n.368C>A
ENST00000525987.5:n.722C>A
ENST00000526088.5:c.277C>A ENSP00000436615.1:p.Gln93Lys
ENST00000527939.1:c.*21C>A ENSP00000436956.1:n.*21C>A
ENST00000530677.1:c.86C>A
ENST00000531169.5:c.277C>A ENSP00000437053.1:p.Gln93Lys
ENST00000532593.5:c.64C>A ENSP00000431802.1:p.Gln22Lys
ENST00000532612.5:c.309C>A
ENST00000532699.1:c.*141C>A ENSP00000456434.1:n.*141C>A
ENST00000534122.5:n.994C>A
ENST00000534550.5:c.*21C>A ENSP00000434488.1:n.*21C>A
NM_001037290.2:c.277C>A NP_001032367.2:p.Gln93Lys
NM_001256397.1:c.277C>A NP_001243326.1:p.Gln93Lys
NM_001256398.1:c.379C>A NP_001243327.1:p.Gln127Lys
NM_001256400.1:c.64C>A NP_001243329.1:p.Gln22Lys
NM_031938.5:c.379C>A NP_114144.4:p.Gln127Lys
NM_001037290.3:c.277C>A NP_001032367.3:p.Gln93Lys
NM_001256397.2:c.277C>A NP_001243326.2:p.Gln93Lys
NM_001256398.2:c.379C>A NP_001243327.2:p.Gln127Lys
NM_001256400.2:c.64C>A NP_001243329.2:p.Gln22Lys
NM_031938.7:c.379C>A MANE Select NP_114144.5:p.Gln127Lys
NM_001037290.4:c.277C>A NP_001032367.3:p.Gln93Lys
NM_001256397.3:c.277C>A NP_001243326.2:p.Gln93Lys
NM_001256398.3:c.379C>A NP_001243327.2:p.Gln127Lys
NM_001256400.3:c.64C>A NP_001243329.2:p.Gln22Lys