Canonical Allele Identifier: CA13470793
Gene: BCO2 HGNC NCBI

Linked Data

dbSNP Id: rs2250417
gnomAD v2: 11-112085316-T-C
gnomAD v3: 11-112214593-T-C
gnomAD v4: 11-112214593-T-C
MyVariant Identifiers: chr11:g.112085316T>C (hg19) chr11:g.112214593T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112214593T>C , CM000673.2:g.112214593T>C GRCh38
NC_000011.9:g.112085316T>C , CM000673.1:g.112085316T>C GRCh37
NC_000011.8:g.111590526T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357685.11:c.1333-169T>C MANE Select ENSP00000350314.5:n.1333-169T>C
ENST00000357685.9:c.1333-169T>C ENSP00000350314.5:n.1333-169T>C
ENST00000361053.8:c.1114-169T>C ENSP00000354338.4:n.1114-169T>C
ENST00000438022.5:c.1231-169T>C ENSP00000414843.1:n.1231-169T>C
ENST00000460924.6:n.2206-169T>C
ENST00000494860.5:n.1366-169T>C
ENST00000525175.1:c.21-169T>C
ENST00000526088.5:c.1231-169T>C ENSP00000436615.1:n.1231-169T>C
ENST00000530677.1:c.635-169T>C
ENST00000531169.5:c.1231-169T>C ENSP00000437053.1:n.1231-169T>C
ENST00000532593.5:c.1018-169T>C ENSP00000431802.1:n.1018-169T>C
NM_001037290.2:c.1231-169T>C NP_001032367.2:n.1231-169T>C
NM_001256397.1:c.1231-169T>C NP_001243326.1:n.1231-169T>C
NM_001256398.1:c.1114-169T>C NP_001243327.1:n.1114-169T>C
NM_001256400.1:c.1018-169T>C NP_001243329.1:n.1018-169T>C
NM_031938.5:c.1333-169T>C NP_114144.4:n.1333-169T>C
NM_001037290.3:c.1231-169T>C NP_001032367.3:n.1231-169T>C
NM_001256397.2:c.1231-169T>C NP_001243326.2:n.1231-169T>C
NM_001256398.2:c.1114-169T>C NP_001243327.2:n.1114-169T>C
NM_001256400.2:c.1018-169T>C NP_001243329.2:n.1018-169T>C
NM_031938.7:c.1333-169T>C MANE Select NP_114144.5:n.1333-169T>C
NM_001037290.4:c.1231-169T>C NP_001032367.3:n.1231-169T>C
NM_001256397.3:c.1231-169T>C NP_001243326.2:n.1231-169T>C
NM_001256398.3:c.1114-169T>C NP_001243327.2:n.1114-169T>C
NM_001256400.3:c.1018-169T>C NP_001243329.2:n.1018-169T>C
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