Canonical Allele Identifier: CA382628534

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193615-T-G
• MyVariant Identifiers: chr11:g.112064338T>G (hg19) ; chr11:g.112193615T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193615T>G , CM000673.2:g.112193615T>G	GRCh38
NC_000011.9:g.112064338T>G , CM000673.1:g.112064338T>G	GRCh37
NC_000011.8:g.111569548T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357685.11:c.435T>G MANE Select	ENSP00000350314.5:p.Phe145Leu
ENST00000357685.9:c.435T>G	ENSP00000350314.5:p.Phe145Leu
ENST00000361053.8:c.435T>G	ENSP00000354338.4:p.Phe145Leu
ENST00000438022.5:c.333T>G	ENSP00000414843.1:p.Phe111Leu
ENST00000460924.6:n.527T>G
ENST00000494860.5:n.287T>G
ENST00000525468.1:n.424T>G
ENST00000525987.5:n.778T>G
ENST00000526088.5:c.333T>G	ENSP00000436615.1:p.Phe111Leu
ENST00000527939.1:c.*77T>G	ENSP00000436956.1:n.*77T>G
ENST00000530677.1:c.142T>G
ENST00000531169.5:c.333T>G	ENSP00000437053.1:p.Phe111Leu
ENST00000532593.5:c.120T>G	ENSP00000431802.1:p.Phe40Leu
ENST00000532612.5:c.365T>G
ENST00000534122.5:n.1050T>G
ENST00000534550.5:c.*77T>G	ENSP00000434488.1:n.*77T>G
NM_001037290.2:c.333T>G	NP_001032367.2:p.Phe111Leu
NM_001256397.1:c.333T>G	NP_001243326.1:p.Phe111Leu
NM_001256398.1:c.435T>G	NP_001243327.1:p.Phe145Leu
NM_001256400.1:c.120T>G	NP_001243329.1:p.Phe40Leu
NM_031938.5:c.435T>G	NP_114144.4:p.Phe145Leu
NM_001037290.3:c.333T>G	NP_001032367.3:p.Phe111Leu
NM_001256397.2:c.333T>G	NP_001243326.2:p.Phe111Leu
NM_001256398.2:c.435T>G	NP_001243327.2:p.Phe145Leu
NM_001256400.2:c.120T>G	NP_001243329.2:p.Phe40Leu
NM_031938.7:c.435T>G MANE Select	NP_114144.5:p.Phe145Leu
NM_001037290.4:c.333T>G	NP_001032367.3:p.Phe111Leu
NM_001256397.3:c.333T>G	NP_001243326.2:p.Phe111Leu
NM_001256398.3:c.435T>G	NP_001243327.2:p.Phe145Leu
NM_001256400.3:c.120T>G	NP_001243329.2:p.Phe40Leu