Canonical Allele Identifier: CA6833639
Gene: P2RX7 HGNC NCBI
COSMIC:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121184501A>C , CM000674.2:g.121184501A>C GRCh38
NC_000012.11:g.121622304A>C , CM000674.1:g.121622304A>C GRCh37
NC_000012.10:g.120106687A>C NCBI36
NG_011471.2:g.56627A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1487A>C MANE Select ENSP00000330696.6:p.Glu496Ala
ENST00000261826.10:c.*940A>C ENSP00000261826.6:n.*940A>C
ENST00000328963.9:c.1487A>C ENSP00000330696.6:p.Glu496Ala
ENST00000535250.5:c.1571A>C ENSP00000442572.2:n.1571A>C
ENST00000535600.2:c.1304A>C ENSP00000442470.1:n.1304A>C
ENST00000537312.5:c.*1258A>C ENSP00000438586.1:n.*1258A>C
ENST00000538011.5:c.1626A>C ENSP00000439247.1:n.1626A>C
ENST00000539606.5:c.1710A>C ENSP00000445325.1:n.1710A>C
ENST00000539695.5:n.1656A>C
ENST00000541022.5:c.1277A>C ENSP00000441230.1:n.1277A>C
ENST00000541564.5:c.1350A>C ENSP00000443640.1:n.1350A>C
ENST00000541716.5:c.1498A>C ENSP00000437729.1:n.1498A>C
NM_002562.5:c.1487A>C NP_002553.3:p.Glu496Ala
NR_033948.1:n.1853A>C
NR_033949.1:n.1769A>C
NR_033950.1:n.1730A>C
NR_033951.1:n.1714A>C
NR_033952.1:n.1641A>C
NR_033953.1:n.1554A>C
NR_033954.1:n.1533A>C
NR_033955.1:n.1493A>C
NR_033956.1:n.1420A>C
XM_011538418.1:c.1220A>C XP_011536720.1:p.Glu407Ala
XM_011538419.1:c.1175A>C XP_011536721.1:p.Glu392Ala
XM_011538420.1:c.620A>C XP_011536722.1:p.Glu207Ala
XR_945459.1:n.189+18997T>G
XR_945460.1:n.298+18997T>G
XM_011538419.3:c.1175A>C XP_011536721.1:p.Glu392Ala
XM_011538420.3:c.620A>C XP_011536722.1:p.Glu207Ala
XM_017019364.2:c.1127A>C XP_016874853.1:p.Glu376Ala
XM_017019365.2:c.1127A>C XP_016874854.1:p.Glu376Ala
XM_017019366.2:c.734A>C XP_016874855.1:p.Glu245Ala
XM_017019367.2:c.734A>C XP_016874856.1:p.Glu245Ala
XR_001749352.2:n.186+18997T>G
XR_001749353.2:n.303+18997T>G
XR_001749354.2:n.186+18997T>G
XR_945459.3:n.186+18997T>G
XR_945460.3:n.298+18997T>G
NM_002562.6:c.1487A>C MANE Select NP_002553.3:p.Glu496Ala
NR_033948.2:n.1805A>C
NR_033949.2:n.1721A>C
NR_033950.2:n.1682A>C
NR_033951.2:n.1666A>C
NR_033952.2:n.1593A>C
NR_033953.2:n.1497A>C
NR_033954.2:n.1485A>C
NR_033955.2:n.1445A>C
NR_033956.2:n.1372A>C