Canonical Allele Identifier: CA382628708

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064417G>T (hg19) ; chr11:g.112193694G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193694G>T , CM000673.2:g.112193694G>T	GRCh38
NC_000011.9:g.112064417G>T , CM000673.1:g.112064417G>T	GRCh37
NC_000011.8:g.111569627G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.514G>T MANE Select	ENSP00000350314.5:p.Ala172Ser
ENST00000357685.9:c.514G>T	ENSP00000350314.5:p.Ala172Ser
ENST00000361053.8:c.514G>T	ENSP00000354338.4:p.Ala172Ser
ENST00000438022.5:c.412G>T	ENSP00000414843.1:p.Ala138Ser
ENST00000460924.6:n.606G>T
ENST00000494860.5:n.366G>T
ENST00000525987.5:n.857G>T
ENST00000526088.5:c.412G>T	ENSP00000436615.1:p.Ala138Ser
ENST00000527939.1:c.*156G>T	ENSP00000436956.1:n.*156G>T
ENST00000530677.1:c.212+9G>T
ENST00000531169.5:c.412G>T	ENSP00000437053.1:p.Ala138Ser
ENST00000532593.5:c.199G>T	ENSP00000431802.1:p.Ala67Ser
ENST00000532612.5:c.444G>T
ENST00000534122.5:n.1129G>T
ENST00000534550.5:c.*156G>T	ENSP00000434488.1:n.*156G>T
NM_001037290.2:c.412G>T	NP_001032367.2:p.Ala138Ser
NM_001256397.1:c.412G>T	NP_001243326.1:p.Ala138Ser
NM_001256398.1:c.514G>T	NP_001243327.1:p.Ala172Ser
NM_001256400.1:c.199G>T	NP_001243329.1:p.Ala67Ser
NM_031938.5:c.514G>T	NP_114144.4:p.Ala172Ser
NM_001037290.3:c.412G>T	NP_001032367.3:p.Ala138Ser
NM_001256397.2:c.412G>T	NP_001243326.2:p.Ala138Ser
NM_001256398.2:c.514G>T	NP_001243327.2:p.Ala172Ser
NM_001256400.2:c.199G>T	NP_001243329.2:p.Ala67Ser
NM_031938.7:c.514G>T MANE Select	NP_114144.5:p.Ala172Ser
NM_001037290.4:c.412G>T	NP_001032367.3:p.Ala138Ser
NM_001256397.3:c.412G>T	NP_001243326.2:p.Ala138Ser
NM_001256398.3:c.514G>T	NP_001243327.2:p.Ala172Ser
NM_001256400.3:c.199G>T	NP_001243329.2:p.Ala67Ser