Canonical Allele Identifier: CA382628585

Gene: BCO2

Linked Data

• dbSNP Id: rs1484009855
• gnomAD v2: 11-112064363-T-G
• gnomAD v4: 11-112193640-T-G
• MyVariant Identifiers: chr11:g.112064363T>G (hg19) ; chr11:g.112193640T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193640T>G , CM000673.2:g.112193640T>G	GRCh38
NC_000011.9:g.112064363T>G , CM000673.1:g.112064363T>G	GRCh37
NC_000011.8:g.111569573T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.460T>G MANE Select	ENSP00000350314.5:p.Cys154Gly
ENST00000357685.9:c.460T>G	ENSP00000350314.5:p.Cys154Gly
ENST00000361053.8:c.460T>G	ENSP00000354338.4:p.Cys154Gly
ENST00000438022.5:c.358T>G	ENSP00000414843.1:p.Cys120Gly
ENST00000460924.6:n.552T>G
ENST00000494860.5:n.312T>G
ENST00000525987.5:n.803T>G
ENST00000526088.5:c.358T>G	ENSP00000436615.1:p.Cys120Gly
ENST00000527939.1:c.*102T>G	ENSP00000436956.1:n.*102T>G
ENST00000530677.1:c.167T>G
ENST00000531169.5:c.358T>G	ENSP00000437053.1:p.Cys120Gly
ENST00000532593.5:c.145T>G	ENSP00000431802.1:p.Cys49Gly
ENST00000532612.5:c.390T>G
ENST00000534122.5:n.1075T>G
ENST00000534550.5:c.*102T>G	ENSP00000434488.1:n.*102T>G
NM_001037290.2:c.358T>G	NP_001032367.2:p.Cys120Gly
NM_001256397.1:c.358T>G	NP_001243326.1:p.Cys120Gly
NM_001256398.1:c.460T>G	NP_001243327.1:p.Cys154Gly
NM_001256400.1:c.145T>G	NP_001243329.1:p.Cys49Gly
NM_031938.5:c.460T>G	NP_114144.4:p.Cys154Gly
NM_001037290.3:c.358T>G	NP_001032367.3:p.Cys120Gly
NM_001256397.2:c.358T>G	NP_001243326.2:p.Cys120Gly
NM_001256398.2:c.460T>G	NP_001243327.2:p.Cys154Gly
NM_001256400.2:c.145T>G	NP_001243329.2:p.Cys49Gly
NM_031938.7:c.460T>G MANE Select	NP_114144.5:p.Cys154Gly
NM_001037290.4:c.358T>G	NP_001032367.3:p.Cys120Gly
NM_001256397.3:c.358T>G	NP_001243326.2:p.Cys120Gly
NM_001256398.3:c.460T>G	NP_001243327.2:p.Cys154Gly
NM_001256400.3:c.145T>G	NP_001243329.2:p.Cys49Gly