Canonical Allele Identifier: CA482159184

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615228G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177425G>A , CM000674.2:g.121177425G>A	GRCh38
NC_000012.11:g.121615228G>A , CM000674.1:g.121615228G>A	GRCh37
NC_000012.10:g.120099611G>A	NCBI36
NG_011471.2:g.49551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1167G>A MANE Select	ENSP00000330696.6:p.Glu389=
ENST00000261826.10:c.*620G>A	ENSP00000261826.6:n.*620G>A
ENST00000328963.9:c.1167G>A	ENSP00000330696.6:p.Glu389=
ENST00000535250.5:c.1251G>A	ENSP00000442572.2:n.1251G>A
ENST00000535600.2:c.984G>A	ENSP00000442470.1:n.984G>A
ENST00000537312.5:c.*938G>A	ENSP00000438586.1:n.*938G>A
ENST00000538011.5:c.1306G>A	ENSP00000439247.1:n.1306G>A
ENST00000539606.5:c.1390G>A	ENSP00000445325.1:n.1390G>A
ENST00000539695.5:n.1336G>A
ENST00000541022.5:c.957G>A	ENSP00000441230.1:n.957G>A
ENST00000541564.5:c.1030G>A	ENSP00000443640.1:n.1030G>A
ENST00000541716.5:c.1178G>A	ENSP00000437729.1:n.1178G>A
NM_002562.5:c.1167G>A	NP_002553.3:p.Glu389=
NR_033948.1:n.1533G>A
NR_033949.1:n.1449G>A
NR_033950.1:n.1410G>A
NR_033951.1:n.1394G>A
NR_033952.1:n.1321G>A
NR_033953.1:n.1234G>A
NR_033954.1:n.1213G>A
NR_033955.1:n.1173G>A
NR_033956.1:n.1100G>A
XM_011538418.1:c.900G>A	XP_011536720.1:p.Glu300=
XM_011538419.1:c.855G>A	XP_011536721.1:p.Glu285=
XM_011538420.1:c.300G>A	XP_011536722.1:p.Glu100=
XR_945459.1:n.190-15008C>T
XR_945460.1:n.299-15008C>T
XM_011538419.3:c.855G>A	XP_011536721.1:p.Glu285=
XM_011538420.3:c.300G>A	XP_011536722.1:p.Glu100=
XM_017019364.2:c.807G>A	XP_016874853.1:p.Glu269=
XM_017019365.2:c.807G>A	XP_016874854.1:p.Glu269=
XM_017019366.2:c.414G>A	XP_016874855.1:p.Glu138=
XM_017019367.2:c.414G>A	XP_016874856.1:p.Glu138=
XR_001749352.2:n.186+26073C>T
XR_001749353.2:n.304-15008C>T
XR_001749354.2:n.186+26073C>T
XR_945459.3:n.187-15008C>T
XR_945460.3:n.299-15008C>T
NM_002562.6:c.1167G>A MANE Select	NP_002553.3:p.Glu389=
NR_033948.2:n.1485G>A
NR_033949.2:n.1401G>A
NR_033950.2:n.1362G>A
NR_033951.2:n.1346G>A
NR_033952.2:n.1273G>A
NR_033953.2:n.1177G>A
NR_033954.2:n.1165G>A
NR_033955.2:n.1125G>A
NR_033956.2:n.1052G>A