Canonical Allele Identifier: CA386959963

Gene: P2RX7

Linked Data

• COSMIC: COSM691752
• MyVariant Identifiers: chr12:g.121615214A>T (hg19) ; chr12:g.121177411A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177411A>T , CM000674.2:g.121177411A>T	GRCh38
NC_000012.11:g.121615214A>T , CM000674.1:g.121615214A>T	GRCh37
NC_000012.10:g.120099597A>T	NCBI36
NG_011471.2:g.49537A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1153A>T MANE Select	ENSP00000330696.6:p.Arg385Trp
ENST00000261826.10:c.*606A>T	ENSP00000261826.6:n.*606A>T
ENST00000328963.9:c.1153A>T	ENSP00000330696.6:p.Arg385Trp
ENST00000535250.5:c.1237A>T	ENSP00000442572.2:n.1237A>T
ENST00000535600.2:c.970A>T	ENSP00000442470.1:n.970A>T
ENST00000537312.5:c.*924A>T	ENSP00000438586.1:n.*924A>T
ENST00000538011.5:c.1292A>T	ENSP00000439247.1:n.1292A>T
ENST00000539606.5:c.1376A>T	ENSP00000445325.1:n.1376A>T
ENST00000539695.5:n.1322A>T
ENST00000541022.5:c.943A>T	ENSP00000441230.1:n.943A>T
ENST00000541564.5:c.1016A>T	ENSP00000443640.1:n.1016A>T
ENST00000541716.5:c.1164A>T	ENSP00000437729.1:n.1164A>T
NM_002562.5:c.1153A>T	NP_002553.3:p.Arg385Trp
NR_033948.1:n.1519A>T
NR_033949.1:n.1435A>T
NR_033950.1:n.1396A>T
NR_033951.1:n.1380A>T
NR_033952.1:n.1307A>T
NR_033953.1:n.1220A>T
NR_033954.1:n.1199A>T
NR_033955.1:n.1159A>T
NR_033956.1:n.1086A>T
XM_011538418.1:c.886A>T	XP_011536720.1:p.Arg296Trp
XM_011538419.1:c.841A>T	XP_011536721.1:p.Arg281Trp
XM_011538420.1:c.286A>T	XP_011536722.1:p.Arg96Trp
XR_945459.1:n.190-14994T>A
XR_945460.1:n.299-14994T>A
XM_011538419.3:c.841A>T	XP_011536721.1:p.Arg281Trp
XM_011538420.3:c.286A>T	XP_011536722.1:p.Arg96Trp
XM_017019364.2:c.793A>T	XP_016874853.1:p.Arg265Trp
XM_017019365.2:c.793A>T	XP_016874854.1:p.Arg265Trp
XM_017019366.2:c.400A>T	XP_016874855.1:p.Arg134Trp
XM_017019367.2:c.400A>T	XP_016874856.1:p.Arg134Trp
XR_001749352.2:n.186+26087T>A
XR_001749353.2:n.304-14994T>A
XR_001749354.2:n.186+26087T>A
XR_945459.3:n.187-14994T>A
XR_945460.3:n.299-14994T>A
NM_002562.6:c.1153A>T MANE Select	NP_002553.3:p.Arg385Trp
NR_033948.2:n.1471A>T
NR_033949.2:n.1387A>T
NR_033950.2:n.1348A>T
NR_033951.2:n.1332A>T
NR_033952.2:n.1259A>T
NR_033953.2:n.1163A>T
NR_033954.2:n.1151A>T
NR_033955.2:n.1111A>T
NR_033956.2:n.1038A>T