Canonical Allele Identifier: CA382628385

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193548-G-T
• MyVariant Identifiers: chr11:g.112064271G>T (hg19) ; chr11:g.112193548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193548G>T , CM000673.2:g.112193548G>T	GRCh38
NC_000011.9:g.112064271G>T , CM000673.1:g.112064271G>T	GRCh37
NC_000011.8:g.111569481G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.368G>T MANE Select	ENSP00000350314.5:p.Ser123Ile
ENST00000357685.9:c.368G>T	ENSP00000350314.5:p.Ser123Ile
ENST00000361053.8:c.368G>T	ENSP00000354338.4:p.Ser123Ile
ENST00000438022.5:c.266G>T	ENSP00000414843.1:p.Ser89Ile
ENST00000460924.6:n.460G>T
ENST00000494860.5:n.220G>T
ENST00000525468.1:n.357G>T
ENST00000525987.5:n.711G>T
ENST00000526088.5:c.266G>T	ENSP00000436615.1:p.Ser89Ile
ENST00000527939.1:c.*10G>T	ENSP00000436956.1:n.*10G>T
ENST00000530677.1:c.75G>T
ENST00000531169.5:c.266G>T	ENSP00000437053.1:p.Ser89Ile
ENST00000532593.5:c.53G>T	ENSP00000431802.1:p.Ser18Ile
ENST00000532612.5:c.298G>T
ENST00000532699.1:c.*130G>T	ENSP00000456434.1:n.*130G>T
ENST00000534122.5:n.983G>T
ENST00000534550.5:c.*10G>T	ENSP00000434488.1:n.*10G>T
NM_001037290.2:c.266G>T	NP_001032367.2:p.Ser89Ile
NM_001256397.1:c.266G>T	NP_001243326.1:p.Ser89Ile
NM_001256398.1:c.368G>T	NP_001243327.1:p.Ser123Ile
NM_001256400.1:c.53G>T	NP_001243329.1:p.Ser18Ile
NM_031938.5:c.368G>T	NP_114144.4:p.Ser123Ile
NM_001037290.3:c.266G>T	NP_001032367.3:p.Ser89Ile
NM_001256397.2:c.266G>T	NP_001243326.2:p.Ser89Ile
NM_001256398.2:c.368G>T	NP_001243327.2:p.Ser123Ile
NM_001256400.2:c.53G>T	NP_001243329.2:p.Ser18Ile
NM_031938.7:c.368G>T MANE Select	NP_114144.5:p.Ser123Ile
NM_001037290.4:c.266G>T	NP_001032367.3:p.Ser89Ile
NM_001256397.3:c.266G>T	NP_001243326.2:p.Ser89Ile
NM_001256398.3:c.368G>T	NP_001243327.2:p.Ser123Ile
NM_001256400.3:c.53G>T	NP_001243329.2:p.Ser18Ile