Canonical Allele Identifier: CA942293676

Gene: BCO2

Linked Data

• dbSNP Id: rs1859602801
• gnomAD v3: 11-112214555-T-C
• gnomAD v4: 11-112214555-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112214555T>C , CM000673.2:g.112214555T>C	GRCh38
NC_000011.9:g.112085278T>C , CM000673.1:g.112085278T>C	GRCh37
NC_000011.8:g.111590488T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.1333-207T>C MANE Select	ENSP00000350314.5:n.1333-207T>C
ENST00000357685.9:c.1333-207T>C	ENSP00000350314.5:n.1333-207T>C
ENST00000361053.8:c.1114-207T>C	ENSP00000354338.4:n.1114-207T>C
ENST00000438022.5:c.1231-207T>C	ENSP00000414843.1:n.1231-207T>C
ENST00000460924.6:n.2206-207T>C
ENST00000494860.5:n.1366-207T>C
ENST00000525175.1:c.21-207T>C
ENST00000526088.5:c.1231-207T>C	ENSP00000436615.1:n.1231-207T>C
ENST00000530677.1:c.635-207T>C
ENST00000531169.5:c.1231-207T>C	ENSP00000437053.1:n.1231-207T>C
ENST00000532593.5:c.1018-207T>C	ENSP00000431802.1:n.1018-207T>C
NM_001037290.2:c.1231-207T>C	NP_001032367.2:n.1231-207T>C
NM_001256397.1:c.1231-207T>C	NP_001243326.1:n.1231-207T>C
NM_001256398.1:c.1114-207T>C	NP_001243327.1:n.1114-207T>C
NM_001256400.1:c.1018-207T>C	NP_001243329.1:n.1018-207T>C
NM_031938.5:c.1333-207T>C	NP_114144.4:n.1333-207T>C
NM_001037290.3:c.1231-207T>C	NP_001032367.3:n.1231-207T>C
NM_001256397.2:c.1231-207T>C	NP_001243326.2:n.1231-207T>C
NM_001256398.2:c.1114-207T>C	NP_001243327.2:n.1114-207T>C
NM_001256400.2:c.1018-207T>C	NP_001243329.2:n.1018-207T>C
NM_031938.7:c.1333-207T>C MANE Select	NP_114144.5:n.1333-207T>C
NM_001037290.4:c.1231-207T>C	NP_001032367.3:n.1231-207T>C
NM_001256397.3:c.1231-207T>C	NP_001243326.2:n.1231-207T>C
NM_001256398.3:c.1114-207T>C	NP_001243327.2:n.1114-207T>C
NM_001256400.3:c.1018-207T>C	NP_001243329.2:n.1018-207T>C