Canonical Allele Identifier: CA6834150

Gene: P2RX4

Linked Data

• ClinVar Variation Id: 2402277
• ClinVar RCV Id: RCV002764003
• dbSNP Id: rs148705105
• ExAC: 12:121670284 C / T
• gnomAD v2: 12-121670284-C-T
• gnomAD v3: 12-121232481-C-T
• gnomAD v4: 12-121232481-C-T
• MyVariant Identifiers: chr12:g.121670284C>T (hg19) ; chr12:g.121232481C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121232481C>T , CM000674.2:g.121232481C>T	GRCh38
NC_000012.11:g.121670284C>T , CM000674.1:g.121670284C>T	GRCh37
NC_000012.10:g.120154667C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337233.9:c.952C>T MANE Select	ENSP00000336607.4:p.Arg318Cys
ENST00000337233.8:c.952C>T	ENSP00000336607.4:p.Arg318Cys
ENST00000359949.11:c.1000C>T	ENSP00000353032.7:p.Arg334Cys
ENST00000499638.6:n.1945C>T
ENST00000538417.2:c.839C>T
ENST00000541187.5:n.797C>T
ENST00000542067.5:c.871C>T	ENSP00000438329.1:p.Arg291Cys
ENST00000543171.5:c.952C>T	ENSP00000438131.2:p.Arg318Cys
ENST00000543318.5:c.*543C>T	ENSP00000444274.1:n.*543C>T
ENST00000543430.5:n.903C>T
ENST00000543984.5:c.*645C>T	ENSP00000439386.1:n.*645C>T
NM_001256796.1:c.1000C>T	NP_001243725.1:p.Arg334Cys
NM_001261397.1:c.871C>T	NP_001248326.1:p.Arg291Cys
NM_001261398.1:c.952C>T	NP_001248327.1:p.Arg318Cys
NM_002560.2:c.952C>T	NP_002551.2:p.Arg318Cys
NR_046372.1:n.1294C>T
NR_046373.1:n.1108C>T
XM_011538416.1:c.562C>T	XP_011536718.1:p.Arg188Cys
XR_944559.1:n.989C>T
XM_011538416.2:c.562C>T	XP_011536718.1:p.Arg188Cys
XR_001748726.2:n.935C>T
XR_001748727.1:n.1084C>T
XR_001748728.1:n.1013C>T
XR_001748729.2:n.1021C>T
XR_944559.2:n.988C>T
NM_001256796.2:c.1000C>T	NP_001243725.1:p.Arg334Cys
NM_001261397.2:c.871C>T	NP_001248326.1:p.Arg291Cys
NM_001261398.2:c.952C>T	NP_001248327.1:p.Arg318Cys
NM_002560.3:c.952C>T MANE Select	NP_002551.2:p.Arg318Cys
NR_046372.2:n.1026C>T
NR_046373.2:n.840C>T