Canonical Allele Identifier: CA382628308

Gene: BCO2

Linked Data

• gnomAD v4: 11-112193513-G-T
• MyVariant Identifiers: chr11:g.112064236G>T (hg19) ; chr11:g.112193513G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193513G>T , CM000673.2:g.112193513G>T	GRCh38
NC_000011.9:g.112064236G>T , CM000673.1:g.112064236G>T	GRCh37
NC_000011.8:g.111569446G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.333G>T MANE Select	ENSP00000350314.5:p.Gln111His
ENST00000357685.9:c.333G>T	ENSP00000350314.5:p.Gln111His
ENST00000361053.8:c.333G>T	ENSP00000354338.4:p.Gln111His
ENST00000438022.5:c.231G>T	ENSP00000414843.1:p.Gln77His
ENST00000460924.6:n.425G>T
ENST00000494860.5:n.185G>T
ENST00000525468.1:n.322G>T
ENST00000525987.5:n.676G>T
ENST00000526088.5:c.231G>T	ENSP00000436615.1:p.Gln77His
ENST00000527939.1:c.128G>T	ENSP00000436956.1:p.Ser43Ile
ENST00000530677.1:c.40G>T
ENST00000531003.1:c.*123G>T	ENSP00000435869.1:n.*123G>T
ENST00000531169.5:c.231G>T	ENSP00000437053.1:p.Gln77His
ENST00000532593.5:c.18G>T	ENSP00000431802.1:p.Gln6His
ENST00000532612.5:c.263G>T
ENST00000532699.1:c.*95G>T	ENSP00000456434.1:n.*95G>T
ENST00000534122.5:n.948G>T
ENST00000534550.5:c.128G>T	ENSP00000434488.1:p.Ser43Ile
NM_001037290.2:c.231G>T	NP_001032367.2:p.Gln77His
NM_001256397.1:c.231G>T	NP_001243326.1:p.Gln77His
NM_001256398.1:c.333G>T	NP_001243327.1:p.Gln111His
NM_001256400.1:c.18G>T	NP_001243329.1:p.Gln6His
NM_031938.5:c.333G>T	NP_114144.4:p.Gln111His
NM_001037290.3:c.231G>T	NP_001032367.3:p.Gln77His
NM_001256397.2:c.231G>T	NP_001243326.2:p.Gln77His
NM_001256398.2:c.333G>T	NP_001243327.2:p.Gln111His
NM_001256400.2:c.18G>T	NP_001243329.2:p.Gln6His
NM_031938.7:c.333G>T MANE Select	NP_114144.5:p.Gln111His
NM_001037290.4:c.231G>T	NP_001032367.3:p.Gln77His
NM_001256397.3:c.231G>T	NP_001243326.2:p.Gln77His
NM_001256398.3:c.333G>T	NP_001243327.2:p.Gln111His
NM_001256400.3:c.18G>T	NP_001243329.2:p.Gln6His