Canonical Allele Identifier: CA382628551

Gene: BCO2

Linked Data

• dbSNP Id: rs1226360055
• gnomAD v2: 11-112064346-T-C
• gnomAD v4: 11-112193623-T-C
• MyVariant Identifiers: chr11:g.112064346T>C (hg19) ; chr11:g.112193623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193623T>C , CM000673.2:g.112193623T>C	GRCh38
NC_000011.9:g.112064346T>C , CM000673.1:g.112064346T>C	GRCh37
NC_000011.8:g.111569556T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.443T>C MANE Select	ENSP00000350314.5:p.Leu148Pro
ENST00000357685.9:c.443T>C	ENSP00000350314.5:p.Leu148Pro
ENST00000361053.8:c.443T>C	ENSP00000354338.4:p.Leu148Pro
ENST00000438022.5:c.341T>C	ENSP00000414843.1:p.Leu114Pro
ENST00000460924.6:n.535T>C
ENST00000494860.5:n.295T>C
ENST00000525468.1:n.432T>C
ENST00000525987.5:n.786T>C
ENST00000526088.5:c.341T>C	ENSP00000436615.1:p.Leu114Pro
ENST00000527939.1:c.*85T>C	ENSP00000436956.1:n.*85T>C
ENST00000530677.1:c.150T>C
ENST00000531169.5:c.341T>C	ENSP00000437053.1:p.Leu114Pro
ENST00000532593.5:c.128T>C	ENSP00000431802.1:p.Leu43Pro
ENST00000532612.5:c.373T>C
ENST00000534122.5:n.1058T>C
ENST00000534550.5:c.*85T>C	ENSP00000434488.1:n.*85T>C
NM_001037290.2:c.341T>C	NP_001032367.2:p.Leu114Pro
NM_001256397.1:c.341T>C	NP_001243326.1:p.Leu114Pro
NM_001256398.1:c.443T>C	NP_001243327.1:p.Leu148Pro
NM_001256400.1:c.128T>C	NP_001243329.1:p.Leu43Pro
NM_031938.5:c.443T>C	NP_114144.4:p.Leu148Pro
NM_001037290.3:c.341T>C	NP_001032367.3:p.Leu114Pro
NM_001256397.2:c.341T>C	NP_001243326.2:p.Leu114Pro
NM_001256398.2:c.443T>C	NP_001243327.2:p.Leu148Pro
NM_001256400.2:c.128T>C	NP_001243329.2:p.Leu43Pro
NM_031938.7:c.443T>C MANE Select	NP_114144.5:p.Leu148Pro
NM_001037290.4:c.341T>C	NP_001032367.3:p.Leu114Pro
NM_001256397.3:c.341T>C	NP_001243326.2:p.Leu114Pro
NM_001256398.3:c.443T>C	NP_001243327.2:p.Leu148Pro
NM_001256400.3:c.128T>C	NP_001243329.2:p.Leu43Pro