Canonical Allele Identifier: CA608060528

Gene: P2RX4

Linked Data

• dbSNP Id: rs373107336
• gnomAD v2: 12-121660015-G-T
• gnomAD v4: 12-121222212-G-T
• MyVariant Identifiers: chr12:g.121660015G>T (hg19) ; chr12:g.121222212G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222212G>T , CM000674.2:g.121222212G>T	GRCh38
NC_000012.11:g.121660015G>T , CM000674.1:g.121660015G>T	GRCh37
NC_000012.10:g.120144398G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.427+46G>T MANE Select	ENSP00000336607.4:n.427+46G>T
ENST00000314442.7:n.4561+46G>T
ENST00000337233.8:c.427+46G>T	ENSP00000336607.4:n.427+46G>T
ENST00000359949.11:c.475+46G>T	ENSP00000353032.7:n.475+46G>T
ENST00000499638.6:n.509G>T
ENST00000538417.2:c.357+46G>T
ENST00000538701.5:c.135-6321G>T	ENSP00000444033.1:n.135-6321G>T
ENST00000540930.5:n.463+46G>T
ENST00000541187.5:n.273+46G>T
ENST00000542067.5:c.427+46G>T	ENSP00000438329.1:n.427+46G>T
ENST00000543171.5:c.427+46G>T	ENSP00000438131.2:n.427+46G>T
ENST00000543318.5:c.427+46G>T	ENSP00000444274.1:n.427+46G>T
ENST00000543430.5:n.475+46G>T
ENST00000543984.5:c.*120+46G>T	ENSP00000439386.1:n.*120+46G>T
NM_001256796.1:c.475+46G>T	NP_001243725.1:n.475+46G>T
NM_001261397.1:c.427+46G>T	NP_001248326.1:n.427+46G>T
NM_001261398.1:c.427+46G>T	NP_001248327.1:n.427+46G>T
NM_002560.2:c.427+46G>T	NP_002551.2:n.427+46G>T
NR_046372.1:n.731+46G>T
NR_046373.1:n.583+46G>T
XM_011538416.1:c.135-6321G>T	XP_011536718.1:n.135-6321G>T
XM_011538417.1:c.475+46G>T	XP_011536719.1:n.475+46G>T
XR_944559.1:n.535+46G>T
XM_011538416.2:c.135-6321G>T	XP_011536718.1:n.135-6321G>T
XR_001748726.2:n.481+46G>T
XR_001748727.1:n.544+46G>T
XR_001748728.1:n.544+46G>T
XR_001748729.2:n.481+46G>T
XR_944559.2:n.534+46G>T
NM_001256796.2:c.475+46G>T	NP_001243725.1:n.475+46G>T
NM_001261397.2:c.427+46G>T	NP_001248326.1:n.427+46G>T
NM_001261398.2:c.427+46G>T	NP_001248327.1:n.427+46G>T
NM_002560.3:c.427+46G>T MANE Select	NP_002551.2:n.427+46G>T
NR_046372.2:n.463+46G>T
NR_046373.2:n.315+46G>T