Canonical Allele Identifier: CA477041944

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193540-A-G
• MyVariant Identifiers: chr11:g.112064263A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193540A>G , CM000673.2:g.112193540A>G	GRCh38
NC_000011.9:g.112064263A>G , CM000673.1:g.112064263A>G	GRCh37
NC_000011.8:g.111569473A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.360A>G MANE Select	ENSP00000350314.5:p.Thr120=
ENST00000357685.9:c.360A>G	ENSP00000350314.5:p.Thr120=
ENST00000361053.8:c.360A>G	ENSP00000354338.4:p.Thr120=
ENST00000438022.5:c.258A>G	ENSP00000414843.1:p.Thr86=
ENST00000460924.6:n.452A>G
ENST00000494860.5:n.212A>G
ENST00000525468.1:n.349A>G
ENST00000525987.5:n.703A>G
ENST00000526088.5:c.258A>G	ENSP00000436615.1:p.Thr86=
ENST00000527939.1:c.*2A>G	ENSP00000436956.1:n.*2A>G
ENST00000530677.1:c.67A>G
ENST00000531169.5:c.258A>G	ENSP00000437053.1:p.Thr86=
ENST00000532593.5:c.45A>G	ENSP00000431802.1:p.Thr15=
ENST00000532612.5:c.290A>G
ENST00000532699.1:c.*122A>G	ENSP00000456434.1:n.*122A>G
ENST00000534122.5:n.975A>G
ENST00000534550.5:c.*2A>G	ENSP00000434488.1:n.*2A>G
NM_001037290.2:c.258A>G	NP_001032367.2:p.Thr86=
NM_001256397.1:c.258A>G	NP_001243326.1:p.Thr86=
NM_001256398.1:c.360A>G	NP_001243327.1:p.Thr120=
NM_001256400.1:c.45A>G	NP_001243329.1:p.Thr15=
NM_031938.5:c.360A>G	NP_114144.4:p.Thr120=
NM_001037290.3:c.258A>G	NP_001032367.3:p.Thr86=
NM_001256397.2:c.258A>G	NP_001243326.2:p.Thr86=
NM_001256398.2:c.360A>G	NP_001243327.2:p.Thr120=
NM_001256400.2:c.45A>G	NP_001243329.2:p.Thr15=
NM_031938.7:c.360A>G MANE Select	NP_114144.5:p.Thr120=
NM_001037290.4:c.258A>G	NP_001032367.3:p.Thr86=
NM_001256397.3:c.258A>G	NP_001243326.2:p.Thr86=
NM_001256398.3:c.360A>G	NP_001243327.2:p.Thr120=
NM_001256400.3:c.45A>G	NP_001243329.2:p.Thr15=