Canonical Allele Identifier: CA386948470

Gene: P2RX4

Linked Data

• MyVariant Identifiers: chr12:g.121659938T>G (hg19) ; chr12:g.121222135T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222135T>G , CM000674.2:g.121222135T>G	GRCh38
NC_000012.11:g.121659938T>G , CM000674.1:g.121659938T>G	GRCh37
NC_000012.10:g.120144321T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.396T>G MANE Select	ENSP00000336607.4:p.Cys132Trp
ENST00000314442.7:n.4530T>G
ENST00000337233.8:c.396T>G	ENSP00000336607.4:p.Cys132Trp
ENST00000359949.11:c.444T>G	ENSP00000353032.7:p.Cys148Trp
ENST00000499638.6:n.432T>G
ENST00000538417.2:c.326T>G
ENST00000538701.5:c.135-6398T>G	ENSP00000444033.1:n.135-6398T>G
ENST00000540930.5:n.432T>G
ENST00000541187.5:n.242T>G
ENST00000542067.5:c.396T>G	ENSP00000438329.1:p.Cys132Trp
ENST00000543171.5:c.396T>G	ENSP00000438131.2:p.Cys132Trp
ENST00000543318.5:c.396T>G	ENSP00000444274.1:p.Cys132Trp
ENST00000543430.5:n.444T>G
ENST00000543984.5:c.*89T>G	ENSP00000439386.1:n.*89T>G
NM_001256796.1:c.444T>G	NP_001243725.1:p.Cys148Trp
NM_001261397.1:c.396T>G	NP_001248326.1:p.Cys132Trp
NM_001261398.1:c.396T>G	NP_001248327.1:p.Cys132Trp
NM_002560.2:c.396T>G	NP_002551.2:p.Cys132Trp
NR_046372.1:n.700T>G
NR_046373.1:n.552T>G
XM_011538416.1:c.135-6398T>G	XP_011536718.1:n.135-6398T>G
XM_011538417.1:c.444T>G	XP_011536719.1:p.Cys148Trp
XR_944559.1:n.504T>G
XM_011538416.2:c.135-6398T>G	XP_011536718.1:n.135-6398T>G
XR_001748726.2:n.450T>G
XR_001748727.1:n.513T>G
XR_001748728.1:n.513T>G
XR_001748729.2:n.450T>G
XR_944559.2:n.503T>G
NM_001256796.2:c.444T>G	NP_001243725.1:p.Cys148Trp
NM_001261397.2:c.396T>G	NP_001248326.1:p.Cys132Trp
NM_001261398.2:c.396T>G	NP_001248327.1:p.Cys132Trp
NM_002560.3:c.396T>G MANE Select	NP_002551.2:p.Cys132Trp
NR_046372.2:n.432T>G
NR_046373.2:n.284T>G