Canonical Allele Identifier: CA386948075

Gene: P2RX4

Linked Data

• dbSNP Id: rs1204759120
• gnomAD v2: 12-121659773-G-C
• gnomAD v4: 12-121221970-G-C
• MyVariant Identifiers: chr12:g.121659773G>C (hg19) ; chr12:g.121221970G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121221970G>C , CM000674.2:g.121221970G>C	GRCh38
NC_000012.11:g.121659773G>C , CM000674.1:g.121659773G>C	GRCh37
NC_000012.10:g.120144156G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.340G>C MANE Select	ENSP00000336607.4:p.Gly114Arg
ENST00000314442.7:n.4474G>C
ENST00000337233.8:c.340G>C	ENSP00000336607.4:p.Gly114Arg
ENST00000359949.11:c.388G>C	ENSP00000353032.7:p.Gly130Arg
ENST00000499638.6:n.376G>C
ENST00000538417.2:c.270G>C
ENST00000538701.5:c.135-6563G>C	ENSP00000444033.1:n.135-6563G>C
ENST00000540930.5:n.376G>C
ENST00000541187.5:n.186G>C
ENST00000542067.5:c.340G>C	ENSP00000438329.1:p.Gly114Arg
ENST00000543171.5:c.340G>C	ENSP00000438131.2:p.Gly114Arg
ENST00000543318.5:c.340G>C	ENSP00000444274.1:p.Gly114Arg
ENST00000543430.5:n.388G>C
ENST00000543984.5:c.*33G>C	ENSP00000439386.1:n.*33G>C
NM_001256796.1:c.388G>C	NP_001243725.1:p.Gly130Arg
NM_001261397.1:c.340G>C	NP_001248326.1:p.Gly114Arg
NM_001261398.1:c.340G>C	NP_001248327.1:p.Gly114Arg
NM_002560.2:c.340G>C	NP_002551.2:p.Gly114Arg
NR_046372.1:n.644G>C
NR_046373.1:n.496G>C
XM_011538416.1:c.135-6563G>C	XP_011536718.1:n.135-6563G>C
XM_011538417.1:c.388G>C	XP_011536719.1:p.Gly130Arg
XR_944559.1:n.448G>C
XM_011538416.2:c.135-6563G>C	XP_011536718.1:n.135-6563G>C
XR_001748726.2:n.394G>C
XR_001748727.1:n.457G>C
XR_001748728.1:n.457G>C
XR_001748729.2:n.394G>C
XR_944559.2:n.447G>C
NM_001256796.2:c.388G>C	NP_001243725.1:p.Gly130Arg
NM_001261397.2:c.340G>C	NP_001248326.1:p.Gly114Arg
NM_001261398.2:c.340G>C	NP_001248327.1:p.Gly114Arg
NM_002560.3:c.340G>C MANE Select	NP_002551.2:p.Gly114Arg
NR_046372.2:n.376G>C
NR_046373.2:n.228G>C