Canonical Allele Identifier: CA382628351

Gene: BCO2

Linked Data

• dbSNP Id: rs1867466016
• gnomAD v4: 11-112193532-A-G
• MyVariant Identifiers: chr11:g.112064255A>G (hg19) ; chr11:g.112193532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193532A>G , CM000673.2:g.112193532A>G	GRCh38
NC_000011.9:g.112064255A>G , CM000673.1:g.112064255A>G	GRCh37
NC_000011.8:g.111569465A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.352A>G MANE Select	ENSP00000350314.5:p.Thr118Ala
ENST00000357685.9:c.352A>G	ENSP00000350314.5:p.Thr118Ala
ENST00000361053.8:c.352A>G	ENSP00000354338.4:p.Thr118Ala
ENST00000438022.5:c.250A>G	ENSP00000414843.1:p.Thr84Ala
ENST00000460924.6:n.444A>G
ENST00000494860.5:n.204A>G
ENST00000525468.1:n.341A>G
ENST00000525987.5:n.695A>G
ENST00000526088.5:c.250A>G	ENSP00000436615.1:p.Thr84Ala
ENST00000527939.1:c.147A>G	ENSP00000436956.1:p.Ala49=
ENST00000530677.1:c.59A>G
ENST00000531169.5:c.250A>G	ENSP00000437053.1:p.Thr84Ala
ENST00000532593.5:c.37A>G	ENSP00000431802.1:p.Thr13Ala
ENST00000532612.5:c.282A>G
ENST00000532699.1:c.*114A>G	ENSP00000456434.1:n.*114A>G
ENST00000534122.5:n.967A>G
ENST00000534550.5:c.147A>G	ENSP00000434488.1:p.Ala49=
NM_001037290.2:c.250A>G	NP_001032367.2:p.Thr84Ala
NM_001256397.1:c.250A>G	NP_001243326.1:p.Thr84Ala
NM_001256398.1:c.352A>G	NP_001243327.1:p.Thr118Ala
NM_001256400.1:c.37A>G	NP_001243329.1:p.Thr13Ala
NM_031938.5:c.352A>G	NP_114144.4:p.Thr118Ala
NM_001037290.3:c.250A>G	NP_001032367.3:p.Thr84Ala
NM_001256397.2:c.250A>G	NP_001243326.2:p.Thr84Ala
NM_001256398.2:c.352A>G	NP_001243327.2:p.Thr118Ala
NM_001256400.2:c.37A>G	NP_001243329.2:p.Thr13Ala
NM_031938.7:c.352A>G MANE Select	NP_114144.5:p.Thr118Ala
NM_001037290.4:c.250A>G	NP_001032367.3:p.Thr84Ala
NM_001256397.3:c.250A>G	NP_001243326.2:p.Thr84Ala
NM_001256398.3:c.352A>G	NP_001243327.2:p.Thr118Ala
NM_001256400.3:c.37A>G	NP_001243329.2:p.Thr13Ala