Canonical Allele Identifier: CA477041942

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193537-G-C
• MyVariant Identifiers: chr11:g.112064260G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193537G>C , CM000673.2:g.112193537G>C	GRCh38
NC_000011.9:g.112064260G>C , CM000673.1:g.112064260G>C	GRCh37
NC_000011.8:g.111569470G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.357G>C MANE Select	ENSP00000350314.5:p.Val119=
ENST00000357685.9:c.357G>C	ENSP00000350314.5:p.Val119=
ENST00000361053.8:c.357G>C	ENSP00000354338.4:p.Val119=
ENST00000438022.5:c.255G>C	ENSP00000414843.1:p.Val85=
ENST00000460924.6:n.449G>C
ENST00000494860.5:n.209G>C
ENST00000525468.1:n.346G>C
ENST00000525987.5:n.700G>C
ENST00000526088.5:c.255G>C	ENSP00000436615.1:p.Val85=
ENST00000527939.1:c.152G>C	ENSP00000436956.1:p.Ter51Ser
ENST00000530677.1:c.64G>C
ENST00000531169.5:c.255G>C	ENSP00000437053.1:p.Val85=
ENST00000532593.5:c.42G>C	ENSP00000431802.1:p.Val14=
ENST00000532612.5:c.287G>C
ENST00000532699.1:c.*119G>C	ENSP00000456434.1:n.*119G>C
ENST00000534122.5:n.972G>C
ENST00000534550.5:c.152G>C	ENSP00000434488.1:p.Ter51Ser
NM_001037290.2:c.255G>C	NP_001032367.2:p.Val85=
NM_001256397.1:c.255G>C	NP_001243326.1:p.Val85=
NM_001256398.1:c.357G>C	NP_001243327.1:p.Val119=
NM_001256400.1:c.42G>C	NP_001243329.1:p.Val14=
NM_031938.5:c.357G>C	NP_114144.4:p.Val119=
NM_001037290.3:c.255G>C	NP_001032367.3:p.Val85=
NM_001256397.2:c.255G>C	NP_001243326.2:p.Val85=
NM_001256398.2:c.357G>C	NP_001243327.2:p.Val119=
NM_001256400.2:c.42G>C	NP_001243329.2:p.Val14=
NM_031938.7:c.357G>C MANE Select	NP_114144.5:p.Val119=
NM_001037290.4:c.255G>C	NP_001032367.3:p.Val85=
NM_001256397.3:c.255G>C	NP_001243326.2:p.Val85=
NM_001256398.3:c.357G>C	NP_001243327.2:p.Val119=
NM_001256400.3:c.42G>C	NP_001243329.2:p.Val14=