Canonical Allele Identifier: CA6833514
Community Standard Title: NM_002562.6(P2RX7):c.1042G>T (p.Ala348Ser)
Gene: P2RX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177300G>T , CM000674.2:g.121177300G>T GRCh38
NC_000012.11:g.121615103G>T , CM000674.1:g.121615103G>T GRCh37
NC_000012.10:g.120099486G>T NCBI36
NG_011471.2:g.49426G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002562.6:c.1042G>T MANE Select NP_002553.3:p.Ala348Ser
ENST00000328963.10:c.1042G>T MANE Select ENSP00000330696.6:p.Ala348Ser
NM_002562.5:c.1042G>T NP_002553.3:p.Ala348Ser
NR_033948.1:n.1408G>T
NR_033948.2:n.1360G>T
NR_033949.1:n.1324G>T
NR_033949.2:n.1276G>T
NR_033950.1:n.1285G>T
NR_033950.2:n.1237G>T
NR_033951.1:n.1269G>T
NR_033951.2:n.1221G>T
NR_033952.1:n.1196G>T
NR_033952.2:n.1148G>T
NR_033953.1:n.1109G>T
NR_033953.2:n.1052G>T
NR_033954.1:n.1088G>T
NR_033954.2:n.1040G>T
NR_033955.1:n.1048G>T
NR_033955.2:n.1000G>T
NR_033956.1:n.975G>T
NR_033956.2:n.927G>T
ENST00000261826.10:c.*495G>T ENSP00000261826.6:n.*495G>T
ENST00000328963.9:c.1042G>T ENSP00000330696.6:p.Ala348Ser
ENST00000535250.5:c.1126G>T ENSP00000442572.2:n.1126G>T
ENST00000535600.2:c.859G>T ENSP00000442470.1:n.859G>T
ENST00000537312.5:c.*813G>T ENSP00000438586.1:n.*813G>T
ENST00000538011.5:c.1181G>T ENSP00000439247.1:n.1181G>T
ENST00000539606.5:c.1265G>T ENSP00000445325.1:n.1265G>T
ENST00000539695.5:n.1211G>T
ENST00000541022.5:c.832G>T ENSP00000441230.1:n.832G>T
ENST00000541564.5:c.905G>T ENSP00000443640.1:n.905G>T
ENST00000541716.5:c.1053G>T ENSP00000437729.1:n.1053G>T
XM_011538418.1:c.775G>T XP_011536720.1:p.Ala259Ser
XM_011538419.1:c.730G>T XP_011536721.1:p.Ala244Ser
XM_011538419.3:c.730G>T XP_011536721.1:p.Ala244Ser
XM_011538420.1:c.175G>T XP_011536722.1:p.Ala59Ser
XM_011538420.3:c.175G>T XP_011536722.1:p.Ala59Ser
XM_017019364.2:c.682G>T XP_016874853.1:p.Ala228Ser
XM_017019365.2:c.682G>T XP_016874854.1:p.Ala228Ser
XM_017019366.2:c.289G>T XP_016874855.1:p.Ala97Ser
XM_017019367.2:c.289G>T XP_016874856.1:p.Ala97Ser
XR_001749352.2:n.186+26198C>A
XR_001749353.2:n.304-14883C>A
XR_001749354.2:n.186+26198C>A
XR_945459.1:n.190-14883C>A
XR_945459.3:n.187-14883C>A
XR_945460.1:n.299-14883C>A
XR_945460.3:n.299-14883C>A