Canonical Allele Identifier: CA382628730

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064602C>G (hg19) ; chr11:g.112193879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193879C>G , CM000673.2:g.112193879C>G	GRCh38
NC_000011.9:g.112064602C>G , CM000673.1:g.112064602C>G	GRCh37
NC_000011.8:g.111569812C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.518C>G MANE Select	ENSP00000350314.5:p.Ala173Gly
ENST00000357685.9:c.518C>G	ENSP00000350314.5:p.Ala173Gly
ENST00000361053.8:c.517+182C>G	ENSP00000354338.4:n.517+182C>G
ENST00000438022.5:c.416C>G	ENSP00000414843.1:p.Ala139Gly
ENST00000460924.6:n.791C>G
ENST00000494860.5:n.551C>G
ENST00000526088.5:c.416C>G	ENSP00000436615.1:p.Ala139Gly
ENST00000527939.1:c.*160C>G	ENSP00000436956.1:n.*160C>G
ENST00000530677.1:c.213C>G
ENST00000531169.5:c.416C>G	ENSP00000437053.1:p.Ala139Gly
ENST00000532593.5:c.203C>G	ENSP00000431802.1:p.Ala68Gly
ENST00000532612.5:c.447+182C>G
ENST00000534550.5:c.*159+182C>G	ENSP00000434488.1:n.*159+182C>G
NM_001037290.2:c.416C>G	NP_001032367.2:p.Ala139Gly
NM_001256397.1:c.416C>G	NP_001243326.1:p.Ala139Gly
NM_001256398.1:c.517+182C>G	NP_001243327.1:n.517+182C>G
NM_001256400.1:c.203C>G	NP_001243329.1:p.Ala68Gly
NM_031938.5:c.518C>G	NP_114144.4:p.Ala173Gly
NM_001037290.3:c.416C>G	NP_001032367.3:p.Ala139Gly
NM_001256397.2:c.416C>G	NP_001243326.2:p.Ala139Gly
NM_001256398.2:c.517+182C>G	NP_001243327.2:n.517+182C>G
NM_001256400.2:c.203C>G	NP_001243329.2:p.Ala68Gly
NM_031938.7:c.518C>G MANE Select	NP_114144.5:p.Ala173Gly
NM_001037290.4:c.416C>G	NP_001032367.3:p.Ala139Gly
NM_001256397.3:c.416C>G	NP_001243326.2:p.Ala139Gly
NM_001256398.3:c.517+182C>G	NP_001243327.2:n.517+182C>G
NM_001256400.3:c.203C>G	NP_001243329.2:p.Ala68Gly