Canonical Allele Identifier: CA6833930

Gene: P2RX4

Linked Data

• ClinVar Variation Id: 2307941
• ClinVar RCV Id: RCV004153538
• dbSNP Id: rs772791158
• ExAC: 12:121659937 G / A
• gnomAD v2: 12-121659937-G-A
• gnomAD v4: 12-121222134-G-A
• MyVariant Identifiers: chr12:g.121659937G>A (hg19) ; chr12:g.121222134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222134G>A , CM000674.2:g.121222134G>A	GRCh38
NC_000012.11:g.121659937G>A , CM000674.1:g.121659937G>A	GRCh37
NC_000012.10:g.120144320G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.395G>A MANE Select	ENSP00000336607.4:p.Cys132Tyr
ENST00000314442.7:n.4529G>A
ENST00000337233.8:c.395G>A	ENSP00000336607.4:p.Cys132Tyr
ENST00000359949.11:c.443G>A	ENSP00000353032.7:p.Cys148Tyr
ENST00000499638.6:n.431G>A
ENST00000538417.2:c.325G>A
ENST00000538701.5:c.135-6399G>A	ENSP00000444033.1:n.135-6399G>A
ENST00000540930.5:n.431G>A
ENST00000541187.5:n.241G>A
ENST00000542067.5:c.395G>A	ENSP00000438329.1:p.Cys132Tyr
ENST00000543171.5:c.395G>A	ENSP00000438131.2:p.Cys132Tyr
ENST00000543318.5:c.395G>A	ENSP00000444274.1:p.Cys132Tyr
ENST00000543430.5:n.443G>A
ENST00000543984.5:c.*88G>A	ENSP00000439386.1:n.*88G>A
NM_001256796.1:c.443G>A	NP_001243725.1:p.Cys148Tyr
NM_001261397.1:c.395G>A	NP_001248326.1:p.Cys132Tyr
NM_001261398.1:c.395G>A	NP_001248327.1:p.Cys132Tyr
NM_002560.2:c.395G>A	NP_002551.2:p.Cys132Tyr
NR_046372.1:n.699G>A
NR_046373.1:n.551G>A
XM_011538416.1:c.135-6399G>A	XP_011536718.1:n.135-6399G>A
XM_011538417.1:c.443G>A	XP_011536719.1:p.Cys148Tyr
XR_944559.1:n.503G>A
XM_011538416.2:c.135-6399G>A	XP_011536718.1:n.135-6399G>A
XR_001748726.2:n.449G>A
XR_001748727.1:n.512G>A
XR_001748728.1:n.512G>A
XR_001748729.2:n.449G>A
XR_944559.2:n.502G>A
NM_001256796.2:c.443G>A	NP_001243725.1:p.Cys148Tyr
NM_001261397.2:c.395G>A	NP_001248326.1:p.Cys132Tyr
NM_001261398.2:c.395G>A	NP_001248327.1:p.Cys132Tyr
NM_002560.3:c.395G>A MANE Select	NP_002551.2:p.Cys132Tyr
NR_046372.2:n.431G>A
NR_046373.2:n.283G>A