Canonical Allele Identifier: CA386948388

Gene: P2RX4

Linked Data

• gnomAD v4: 12-121222116-G-A
• MyVariant Identifiers: chr12:g.121659919G>A (hg19) ; chr12:g.121222116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222116G>A , CM000674.2:g.121222116G>A	GRCh38
NC_000012.11:g.121659919G>A , CM000674.1:g.121659919G>A	GRCh37
NC_000012.10:g.120144302G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.377G>A MANE Select	ENSP00000336607.4:p.Cys126Tyr
ENST00000314442.7:n.4511G>A
ENST00000337233.8:c.377G>A	ENSP00000336607.4:p.Cys126Tyr
ENST00000359949.11:c.425G>A	ENSP00000353032.7:p.Cys142Tyr
ENST00000499638.6:n.413G>A
ENST00000538417.2:c.307G>A
ENST00000538701.5:c.135-6417G>A	ENSP00000444033.1:n.135-6417G>A
ENST00000540930.5:n.413G>A
ENST00000541187.5:n.223G>A
ENST00000542067.5:c.377G>A	ENSP00000438329.1:p.Cys126Tyr
ENST00000543171.5:c.377G>A	ENSP00000438131.2:p.Cys126Tyr
ENST00000543318.5:c.377G>A	ENSP00000444274.1:p.Cys126Tyr
ENST00000543430.5:n.425G>A
ENST00000543984.5:c.*70G>A	ENSP00000439386.1:n.*70G>A
NM_001256796.1:c.425G>A	NP_001243725.1:p.Cys142Tyr
NM_001261397.1:c.377G>A	NP_001248326.1:p.Cys126Tyr
NM_001261398.1:c.377G>A	NP_001248327.1:p.Cys126Tyr
NM_002560.2:c.377G>A	NP_002551.2:p.Cys126Tyr
NR_046372.1:n.681G>A
NR_046373.1:n.533G>A
XM_011538416.1:c.135-6417G>A	XP_011536718.1:n.135-6417G>A
XM_011538417.1:c.425G>A	XP_011536719.1:p.Cys142Tyr
XR_944559.1:n.485G>A
XM_011538416.2:c.135-6417G>A	XP_011536718.1:n.135-6417G>A
XR_001748726.2:n.431G>A
XR_001748727.1:n.494G>A
XR_001748728.1:n.494G>A
XR_001748729.2:n.431G>A
XR_944559.2:n.484G>A
NM_001256796.2:c.425G>A	NP_001243725.1:p.Cys142Tyr
NM_001261397.2:c.377G>A	NP_001248326.1:p.Cys126Tyr
NM_001261398.2:c.377G>A	NP_001248327.1:p.Cys126Tyr
NM_002560.3:c.377G>A MANE Select	NP_002551.2:p.Cys126Tyr
NR_046372.2:n.413G>A
NR_046373.2:n.265G>A