Canonical Allele Identifier: CA244546451

Gene: P2RX7

Linked Data

• dbSNP Id: rs746186293
• gnomAD v2: 12-121615218-A-G
• gnomAD v4: 12-121177415-A-G
• MyVariant Identifiers: chr12:g.121615218A>G (hg19) ; chr12:g.121177415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177415A>G , CM000674.2:g.121177415A>G	GRCh38
NC_000012.11:g.121615218A>G , CM000674.1:g.121615218A>G	GRCh37
NC_000012.10:g.120099601A>G	NCBI36
NG_011471.2:g.49541A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1157A>G MANE Select	ENSP00000330696.6:p.Lys386Arg
ENST00000261826.10:c.*610A>G	ENSP00000261826.6:n.*610A>G
ENST00000328963.9:c.1157A>G	ENSP00000330696.6:p.Lys386Arg
ENST00000535250.5:c.1241A>G	ENSP00000442572.2:n.1241A>G
ENST00000535600.2:c.974A>G	ENSP00000442470.1:n.974A>G
ENST00000537312.5:c.*928A>G	ENSP00000438586.1:n.*928A>G
ENST00000538011.5:c.1296A>G	ENSP00000439247.1:n.1296A>G
ENST00000539606.5:c.1380A>G	ENSP00000445325.1:n.1380A>G
ENST00000539695.5:n.1326A>G
ENST00000541022.5:c.947A>G	ENSP00000441230.1:n.947A>G
ENST00000541564.5:c.1020A>G	ENSP00000443640.1:n.1020A>G
ENST00000541716.5:c.1168A>G	ENSP00000437729.1:n.1168A>G
NM_002562.5:c.1157A>G	NP_002553.3:p.Lys386Arg
NR_033948.1:n.1523A>G
NR_033949.1:n.1439A>G
NR_033950.1:n.1400A>G
NR_033951.1:n.1384A>G
NR_033952.1:n.1311A>G
NR_033953.1:n.1224A>G
NR_033954.1:n.1203A>G
NR_033955.1:n.1163A>G
NR_033956.1:n.1090A>G
XM_011538418.1:c.890A>G	XP_011536720.1:p.Lys297Arg
XM_011538419.1:c.845A>G	XP_011536721.1:p.Lys282Arg
XM_011538420.1:c.290A>G	XP_011536722.1:p.Lys97Arg
XR_945459.1:n.190-14998T>C
XR_945460.1:n.299-14998T>C
XM_011538419.3:c.845A>G	XP_011536721.1:p.Lys282Arg
XM_011538420.3:c.290A>G	XP_011536722.1:p.Lys97Arg
XM_017019364.2:c.797A>G	XP_016874853.1:p.Lys266Arg
XM_017019365.2:c.797A>G	XP_016874854.1:p.Lys266Arg
XM_017019366.2:c.404A>G	XP_016874855.1:p.Lys135Arg
XM_017019367.2:c.404A>G	XP_016874856.1:p.Lys135Arg
XR_001749352.2:n.186+26083T>C
XR_001749353.2:n.304-14998T>C
XR_001749354.2:n.186+26083T>C
XR_945459.3:n.187-14998T>C
XR_945460.3:n.299-14998T>C
NM_002562.6:c.1157A>G MANE Select	NP_002553.3:p.Lys386Arg
NR_033948.2:n.1475A>G
NR_033949.2:n.1391A>G
NR_033950.2:n.1352A>G
NR_033951.2:n.1336A>G
NR_033952.2:n.1263A>G
NR_033953.2:n.1167A>G
NR_033954.2:n.1155A>G
NR_033955.2:n.1115A>G
NR_033956.2:n.1042A>G