Canonical Allele Identifier: CA482161189

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121670286C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121232483C>T , CM000674.2:g.121232483C>T	GRCh38
NC_000012.11:g.121670286C>T , CM000674.1:g.121670286C>T	GRCh37
NC_000012.10:g.120154669C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000337233.9:c.954C>T MANE Select	ENSP00000336607.4:p.Arg318=
ENST00000337233.8:c.954C>T	ENSP00000336607.4:p.Arg318=
ENST00000359949.11:c.1002C>T	ENSP00000353032.7:p.Arg334=
ENST00000499638.6:n.1947C>T
ENST00000538417.2:c.841C>T
ENST00000541187.5:n.799C>T
ENST00000542067.5:c.873C>T	ENSP00000438329.1:p.Arg291=
ENST00000543171.5:c.954C>T	ENSP00000438131.2:p.Arg318=
ENST00000543318.5:c.*545C>T	ENSP00000444274.1:n.*545C>T
ENST00000543430.5:n.905C>T
ENST00000543984.5:c.*647C>T	ENSP00000439386.1:n.*647C>T
NM_001256796.1:c.1002C>T	NP_001243725.1:p.Arg334=
NM_001261397.1:c.873C>T	NP_001248326.1:p.Arg291=
NM_001261398.1:c.954C>T	NP_001248327.1:p.Arg318=
NM_002560.2:c.954C>T	NP_002551.2:p.Arg318=
NR_046372.1:n.1296C>T
NR_046373.1:n.1110C>T
XM_011538416.1:c.564C>T	XP_011536718.1:p.Arg188=
XR_944559.1:n.991C>T
XM_011538416.2:c.564C>T	XP_011536718.1:p.Arg188=
XR_001748726.2:n.937C>T
XR_001748727.1:n.1086C>T
XR_001748728.1:n.1015C>T
XR_001748729.2:n.1023C>T
XR_944559.2:n.990C>T
NM_001256796.2:c.1002C>T	NP_001243725.1:p.Arg334=
NM_001261397.2:c.873C>T	NP_001248326.1:p.Arg291=
NM_001261398.2:c.954C>T	NP_001248327.1:p.Arg318=
NM_002560.3:c.954C>T MANE Select	NP_002551.2:p.Arg318=
NR_046372.2:n.1028C>T
NR_046373.2:n.842C>T