Canonical Allele Identifier: CA476802942

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193910-G-A
• MyVariant Identifiers: chr11:g.112064633G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193910G>A , CM000673.2:g.112193910G>A	GRCh38
NC_000011.9:g.112064633G>A , CM000673.1:g.112064633G>A	GRCh37
NC_000011.8:g.111569843G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.549G>A MANE Select	ENSP00000350314.5:p.Val183=
ENST00000357685.9:c.549G>A	ENSP00000350314.5:p.Val183=
ENST00000361053.8:c.517+213G>A	ENSP00000354338.4:n.517+213G>A
ENST00000438022.5:c.447G>A	ENSP00000414843.1:p.Val149=
ENST00000460924.6:n.822G>A
ENST00000494860.5:n.582G>A
ENST00000526088.5:c.447G>A	ENSP00000436615.1:p.Val149=
ENST00000527939.1:c.*191G>A	ENSP00000436956.1:n.*191G>A
ENST00000530677.1:c.244G>A
ENST00000531169.5:c.447G>A	ENSP00000437053.1:p.Val149=
ENST00000532593.5:c.234G>A	ENSP00000431802.1:p.Val78=
ENST00000532612.5:c.447+213G>A
ENST00000534550.5:c.*159+213G>A	ENSP00000434488.1:n.*159+213G>A
NM_001037290.2:c.447G>A	NP_001032367.2:p.Val149=
NM_001256397.1:c.447G>A	NP_001243326.1:p.Val149=
NM_001256398.1:c.517+213G>A	NP_001243327.1:n.517+213G>A
NM_001256400.1:c.234G>A	NP_001243329.1:p.Val78=
NM_031938.5:c.549G>A	NP_114144.4:p.Val183=
NM_001037290.3:c.447G>A	NP_001032367.3:p.Val149=
NM_001256397.2:c.447G>A	NP_001243326.2:p.Val149=
NM_001256398.2:c.517+213G>A	NP_001243327.2:n.517+213G>A
NM_001256400.2:c.234G>A	NP_001243329.2:p.Val78=
NM_031938.7:c.549G>A MANE Select	NP_114144.5:p.Val183=
NM_001037290.4:c.447G>A	NP_001032367.3:p.Val149=
NM_001256397.3:c.447G>A	NP_001243326.2:p.Val149=
NM_001256398.3:c.517+213G>A	NP_001243327.2:n.517+213G>A
NM_001256400.3:c.234G>A	NP_001243329.2:p.Val78=