Canonical Allele Identifier: CA080526

Gene: BCO2

Linked Data

• dbSNP Id: rs747076138
• ExAC: 11:112064264 T / A
• gnomAD v2: 11-112064264-T-A
• gnomAD v4: 11-112193541-T-A
• MyVariant Identifiers: chr11:g.112064264T>A (hg19) ; chr11:g.112193541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112193541T>A , CM000673.2:g.112193541T>A	GRCh38
NC_000011.9:g.112064264T>A , CM000673.1:g.112064264T>A	GRCh37
NC_000011.8:g.111569474T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357685.11:c.361T>A MANE Select	ENSP00000350314.5:p.Tyr121Asn
ENST00000357685.9:c.361T>A	ENSP00000350314.5:p.Tyr121Asn
ENST00000361053.8:c.361T>A	ENSP00000354338.4:p.Tyr121Asn
ENST00000438022.5:c.259T>A	ENSP00000414843.1:p.Tyr87Asn
ENST00000460924.6:n.453T>A
ENST00000494860.5:n.213T>A
ENST00000525468.1:n.350T>A
ENST00000525987.5:n.704T>A
ENST00000526088.5:c.259T>A	ENSP00000436615.1:p.Tyr87Asn
ENST00000527939.1:c.*3T>A	ENSP00000436956.1:n.*3T>A
ENST00000530677.1:c.68T>A
ENST00000531169.5:c.259T>A	ENSP00000437053.1:p.Tyr87Asn
ENST00000532593.5:c.46T>A	ENSP00000431802.1:p.Tyr16Asn
ENST00000532612.5:c.291T>A
ENST00000532699.1:c.*123T>A	ENSP00000456434.1:n.*123T>A
ENST00000534122.5:n.976T>A
ENST00000534550.5:c.*3T>A	ENSP00000434488.1:n.*3T>A
NM_001037290.2:c.259T>A	NP_001032367.2:p.Tyr87Asn
NM_001256397.1:c.259T>A	NP_001243326.1:p.Tyr87Asn
NM_001256398.1:c.361T>A	NP_001243327.1:p.Tyr121Asn
NM_001256400.1:c.46T>A	NP_001243329.1:p.Tyr16Asn
NM_031938.5:c.361T>A	NP_114144.4:p.Tyr121Asn
NM_001037290.3:c.259T>A	NP_001032367.3:p.Tyr87Asn
NM_001256397.2:c.259T>A	NP_001243326.2:p.Tyr87Asn
NM_001256398.2:c.361T>A	NP_001243327.2:p.Tyr121Asn
NM_001256400.2:c.46T>A	NP_001243329.2:p.Tyr16Asn
NM_031938.7:c.361T>A MANE Select	NP_114144.5:p.Tyr121Asn
NM_001037290.4:c.259T>A	NP_001032367.3:p.Tyr87Asn
NM_001256397.3:c.259T>A	NP_001243326.2:p.Tyr87Asn
NM_001256398.3:c.361T>A	NP_001243327.2:p.Tyr121Asn
NM_001256400.3:c.46T>A	NP_001243329.2:p.Tyr16Asn