Canonical Allele Identifier: CA2621399456

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177355-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177356dup , CM000674.2:g.121177356dup	GRCh38
NC_000012.11:g.121615159dup , CM000674.1:g.121615159dup	GRCh37
NC_000012.10:g.120099542dup	NCBI36
NG_011471.2:g.49482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1098dup MANE Select	ENSP00000330696.6:p.Ile367TyrfsTer?
ENST00000261826.10:c.*551dup	ENSP00000261826.6:n.*551dup
ENST00000328963.9:c.1098dup	ENSP00000330696.6:p.Ile367TyrfsTer?
ENST00000535250.5:c.1182dup	ENSP00000442572.2:n.1182dup
ENST00000535600.2:c.915dup	ENSP00000442470.1:n.915dup
ENST00000537312.5:c.*869dup	ENSP00000438586.1:n.*869dup
ENST00000538011.5:c.1237dup	ENSP00000439247.1:n.1237dup
ENST00000539606.5:c.1321dup	ENSP00000445325.1:n.1321dup
ENST00000539695.5:n.1267dup
ENST00000541022.5:c.888dup	ENSP00000441230.1:n.888dup
ENST00000541564.5:c.961dup	ENSP00000443640.1:n.961dup
ENST00000541716.5:c.1109dup	ENSP00000437729.1:n.1109dup
NM_002562.5:c.1098dup	NP_002553.3:p.Ile367TyrfsTer?
NR_033948.1:n.1464dup
NR_033949.1:n.1380dup
NR_033950.1:n.1341dup
NR_033951.1:n.1325dup
NR_033952.1:n.1252dup
NR_033953.1:n.1165dup
NR_033954.1:n.1144dup
NR_033955.1:n.1104dup
NR_033956.1:n.1031dup
XM_011538418.1:c.831dup	XP_011536720.1:p.Ile278TyrfsTer?
XM_011538419.1:c.786dup	XP_011536721.1:p.Ile263TyrfsTer?
XM_011538420.1:c.231dup	XP_011536722.1:p.Ile78TyrfsTer?
XR_945459.1:n.190-14939dup
XR_945460.1:n.299-14939dup
XM_011538419.3:c.786dup	XP_011536721.1:p.Ile263TyrfsTer?
XM_011538420.3:c.231dup	XP_011536722.1:p.Ile78TyrfsTer?
XM_017019364.2:c.738dup	XP_016874853.1:p.Ile247TyrfsTer?
XM_017019365.2:c.738dup	XP_016874854.1:p.Ile247TyrfsTer?
XM_017019366.2:c.345dup	XP_016874855.1:p.Ile116TyrfsTer?
XM_017019367.2:c.345dup	XP_016874856.1:p.Ile116TyrfsTer?
XR_001749352.2:n.186+26142dup
XR_001749353.2:n.304-14939dup
XR_001749354.2:n.186+26142dup
XR_945459.3:n.187-14939dup
XR_945460.3:n.299-14939dup
NM_002562.6:c.1098dup MANE Select	NP_002553.3:p.Ile367TyrfsTer?
NR_033948.2:n.1416dup
NR_033949.2:n.1332dup
NR_033950.2:n.1293dup
NR_033951.2:n.1277dup
NR_033952.2:n.1204dup
NR_033953.2:n.1108dup
NR_033954.2:n.1096dup
NR_033955.2:n.1056dup
NR_033956.2:n.983dup