Canonical Allele Identifier: CA6833522

Gene: P2RX7

Linked Data

• dbSNP Id: rs772161090
• ExAC: 12:121615142 A / T
• gnomAD v2: 12-121615142-A-T
• MyVariant Identifiers: chr12:g.121615142A>T (hg19) ; chr12:g.121177339A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177339A>T , CM000674.2:g.121177339A>T	GRCh38
NC_000012.11:g.121615142A>T , CM000674.1:g.121615142A>T	GRCh37
NC_000012.10:g.120099525A>T	NCBI36
NG_011471.2:g.49465A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1081A>T MANE Select	ENSP00000330696.6:p.Asn361Tyr
ENST00000261826.10:c.*534A>T	ENSP00000261826.6:n.*534A>T
ENST00000328963.9:c.1081A>T	ENSP00000330696.6:p.Asn361Tyr
ENST00000535250.5:c.1165A>T	ENSP00000442572.2:n.1165A>T
ENST00000535600.2:c.898A>T	ENSP00000442470.1:n.898A>T
ENST00000537312.5:c.*852A>T	ENSP00000438586.1:n.*852A>T
ENST00000538011.5:c.1220A>T	ENSP00000439247.1:n.1220A>T
ENST00000539606.5:c.1304A>T	ENSP00000445325.1:n.1304A>T
ENST00000539695.5:n.1250A>T
ENST00000541022.5:c.871A>T	ENSP00000441230.1:n.871A>T
ENST00000541564.5:c.944A>T	ENSP00000443640.1:n.944A>T
ENST00000541716.5:c.1092A>T	ENSP00000437729.1:n.1092A>T
NM_002562.5:c.1081A>T	NP_002553.3:p.Asn361Tyr
NR_033948.1:n.1447A>T
NR_033949.1:n.1363A>T
NR_033950.1:n.1324A>T
NR_033951.1:n.1308A>T
NR_033952.1:n.1235A>T
NR_033953.1:n.1148A>T
NR_033954.1:n.1127A>T
NR_033955.1:n.1087A>T
NR_033956.1:n.1014A>T
XM_011538418.1:c.814A>T	XP_011536720.1:p.Asn272Tyr
XM_011538419.1:c.769A>T	XP_011536721.1:p.Asn257Tyr
XM_011538420.1:c.214A>T	XP_011536722.1:p.Asn72Tyr
XR_945459.1:n.190-14922T>A
XR_945460.1:n.299-14922T>A
XM_011538419.3:c.769A>T	XP_011536721.1:p.Asn257Tyr
XM_011538420.3:c.214A>T	XP_011536722.1:p.Asn72Tyr
XM_017019364.2:c.721A>T	XP_016874853.1:p.Asn241Tyr
XM_017019365.2:c.721A>T	XP_016874854.1:p.Asn241Tyr
XM_017019366.2:c.328A>T	XP_016874855.1:p.Asn110Tyr
XM_017019367.2:c.328A>T	XP_016874856.1:p.Asn110Tyr
XR_001749352.2:n.186+26159T>A
XR_001749353.2:n.304-14922T>A
XR_001749354.2:n.186+26159T>A
XR_945459.3:n.187-14922T>A
XR_945460.3:n.299-14922T>A
NM_002562.6:c.1081A>T MANE Select	NP_002553.3:p.Asn361Tyr
NR_033948.2:n.1399A>T
NR_033949.2:n.1315A>T
NR_033950.2:n.1276A>T
NR_033951.2:n.1260A>T
NR_033952.2:n.1187A>T
NR_033953.2:n.1091A>T
NR_033954.2:n.1079A>T
NR_033955.2:n.1039A>T
NR_033956.2:n.966A>T