Canonical Allele Identifier: CA382628627

Gene: BCO2

Linked Data

• dbSNP Id: rs1458283378
• gnomAD v2: 11-112064381-C-T
• gnomAD v4: 11-112193658-C-T
• MyVariant Identifiers: chr11:g.112064381C>T (hg19) ; chr11:g.112193658C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193658C>T , CM000673.2:g.112193658C>T	GRCh38
NC_000011.9:g.112064381C>T , CM000673.1:g.112064381C>T	GRCh37
NC_000011.8:g.111569591C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.478C>T MANE Select	ENSP00000350314.5:p.Arg160Cys
ENST00000357685.9:c.478C>T	ENSP00000350314.5:p.Arg160Cys
ENST00000361053.8:c.478C>T	ENSP00000354338.4:p.Arg160Cys
ENST00000438022.5:c.376C>T	ENSP00000414843.1:p.Arg126Cys
ENST00000460924.6:n.570C>T
ENST00000494860.5:n.330C>T
ENST00000525987.5:n.821C>T
ENST00000526088.5:c.376C>T	ENSP00000436615.1:p.Arg126Cys
ENST00000527939.1:c.*120C>T	ENSP00000436956.1:n.*120C>T
ENST00000530677.1:c.185C>T
ENST00000531169.5:c.376C>T	ENSP00000437053.1:p.Arg126Cys
ENST00000532593.5:c.163C>T	ENSP00000431802.1:p.Arg55Cys
ENST00000532612.5:c.408C>T
ENST00000534122.5:n.1093C>T
ENST00000534550.5:c.*120C>T	ENSP00000434488.1:n.*120C>T
NM_001037290.2:c.376C>T	NP_001032367.2:p.Arg126Cys
NM_001256397.1:c.376C>T	NP_001243326.1:p.Arg126Cys
NM_001256398.1:c.478C>T	NP_001243327.1:p.Arg160Cys
NM_001256400.1:c.163C>T	NP_001243329.1:p.Arg55Cys
NM_031938.5:c.478C>T	NP_114144.4:p.Arg160Cys
NM_001037290.3:c.376C>T	NP_001032367.3:p.Arg126Cys
NM_001256397.2:c.376C>T	NP_001243326.2:p.Arg126Cys
NM_001256398.2:c.478C>T	NP_001243327.2:p.Arg160Cys
NM_001256400.2:c.163C>T	NP_001243329.2:p.Arg55Cys
NM_031938.7:c.478C>T MANE Select	NP_114144.5:p.Arg160Cys
NM_001037290.4:c.376C>T	NP_001032367.3:p.Arg126Cys
NM_001256397.3:c.376C>T	NP_001243326.2:p.Arg126Cys
NM_001256398.3:c.478C>T	NP_001243327.2:p.Arg160Cys
NM_001256400.3:c.163C>T	NP_001243329.2:p.Arg55Cys