Canonical Allele Identifier: CA6833528

Gene: P2RX7

Linked Data

• dbSNP Id: rs761838744
• ExAC: 12:121615157 C / T
• gnomAD v2: 12-121615157-C-T
• gnomAD v3: 12-121177354-C-T
• gnomAD v4: 12-121177354-C-T
• MyVariant Identifiers: chr12:g.121615157C>T (hg19) ; chr12:g.121177354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177354C>T , CM000674.2:g.121177354C>T	GRCh38
NC_000012.11:g.121615157C>T , CM000674.1:g.121615157C>T	GRCh37
NC_000012.10:g.120099540C>T	NCBI36
NG_011471.2:g.49480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1096C>T MANE Select	ENSP00000330696.6:p.His366Tyr
ENST00000261826.10:c.*549C>T	ENSP00000261826.6:n.*549C>T
ENST00000328963.9:c.1096C>T	ENSP00000330696.6:p.His366Tyr
ENST00000535250.5:c.1180C>T	ENSP00000442572.2:n.1180C>T
ENST00000535600.2:c.913C>T	ENSP00000442470.1:n.913C>T
ENST00000537312.5:c.*867C>T	ENSP00000438586.1:n.*867C>T
ENST00000538011.5:c.1235C>T	ENSP00000439247.1:n.1235C>T
ENST00000539606.5:c.1319C>T	ENSP00000445325.1:n.1319C>T
ENST00000539695.5:n.1265C>T
ENST00000541022.5:c.886C>T	ENSP00000441230.1:n.886C>T
ENST00000541564.5:c.959C>T	ENSP00000443640.1:n.959C>T
ENST00000541716.5:c.1107C>T	ENSP00000437729.1:n.1107C>T
NM_002562.5:c.1096C>T	NP_002553.3:p.His366Tyr
NR_033948.1:n.1462C>T
NR_033949.1:n.1378C>T
NR_033950.1:n.1339C>T
NR_033951.1:n.1323C>T
NR_033952.1:n.1250C>T
NR_033953.1:n.1163C>T
NR_033954.1:n.1142C>T
NR_033955.1:n.1102C>T
NR_033956.1:n.1029C>T
XM_011538418.1:c.829C>T	XP_011536720.1:p.His277Tyr
XM_011538419.1:c.784C>T	XP_011536721.1:p.His262Tyr
XM_011538420.1:c.229C>T	XP_011536722.1:p.His77Tyr
XR_945459.1:n.190-14937G>A
XR_945460.1:n.299-14937G>A
XM_011538419.3:c.784C>T	XP_011536721.1:p.His262Tyr
XM_011538420.3:c.229C>T	XP_011536722.1:p.His77Tyr
XM_017019364.2:c.736C>T	XP_016874853.1:p.His246Tyr
XM_017019365.2:c.736C>T	XP_016874854.1:p.His246Tyr
XM_017019366.2:c.343C>T	XP_016874855.1:p.His115Tyr
XM_017019367.2:c.343C>T	XP_016874856.1:p.His115Tyr
XR_001749352.2:n.186+26144G>A
XR_001749353.2:n.304-14937G>A
XR_001749354.2:n.186+26144G>A
XR_945459.3:n.187-14937G>A
XR_945460.3:n.299-14937G>A
NM_002562.6:c.1096C>T MANE Select	NP_002553.3:p.His366Tyr
NR_033948.2:n.1414C>T
NR_033949.2:n.1330C>T
NR_033950.2:n.1291C>T
NR_033951.2:n.1275C>T
NR_033952.2:n.1202C>T
NR_033953.2:n.1106C>T
NR_033954.2:n.1094C>T
NR_033955.2:n.1054C>T
NR_033956.2:n.981C>T