Canonical Allele Identifier: CA382628747

Gene: BCO2

Linked Data

• MyVariant Identifiers: chr11:g.112064610G>C (hg19) ; chr11:g.112193887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193887G>C , CM000673.2:g.112193887G>C	GRCh38
NC_000011.9:g.112064610G>C , CM000673.1:g.112064610G>C	GRCh37
NC_000011.8:g.111569820G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.526G>C MANE Select	ENSP00000350314.5:p.Asp176His
ENST00000357685.9:c.526G>C	ENSP00000350314.5:p.Asp176His
ENST00000361053.8:c.517+190G>C	ENSP00000354338.4:n.517+190G>C
ENST00000438022.5:c.424G>C	ENSP00000414843.1:p.Asp142His
ENST00000460924.6:n.799G>C
ENST00000494860.5:n.559G>C
ENST00000526088.5:c.424G>C	ENSP00000436615.1:p.Asp142His
ENST00000527939.1:c.*168G>C	ENSP00000436956.1:n.*168G>C
ENST00000530677.1:c.221G>C
ENST00000531169.5:c.424G>C	ENSP00000437053.1:p.Asp142His
ENST00000532593.5:c.211G>C	ENSP00000431802.1:p.Asp71His
ENST00000532612.5:c.447+190G>C
ENST00000534550.5:c.*159+190G>C	ENSP00000434488.1:n.*159+190G>C
NM_001037290.2:c.424G>C	NP_001032367.2:p.Asp142His
NM_001256397.1:c.424G>C	NP_001243326.1:p.Asp142His
NM_001256398.1:c.517+190G>C	NP_001243327.1:n.517+190G>C
NM_001256400.1:c.211G>C	NP_001243329.1:p.Asp71His
NM_031938.5:c.526G>C	NP_114144.4:p.Asp176His
NM_001037290.3:c.424G>C	NP_001032367.3:p.Asp142His
NM_001256397.2:c.424G>C	NP_001243326.2:p.Asp142His
NM_001256398.2:c.517+190G>C	NP_001243327.2:n.517+190G>C
NM_001256400.2:c.211G>C	NP_001243329.2:p.Asp71His
NM_031938.7:c.526G>C MANE Select	NP_114144.5:p.Asp176His
NM_001037290.4:c.424G>C	NP_001032367.3:p.Asp142His
NM_001256397.3:c.424G>C	NP_001243326.2:p.Asp142His
NM_001256398.3:c.517+190G>C	NP_001243327.2:n.517+190G>C
NM_001256400.3:c.211G>C	NP_001243329.2:p.Asp71His