Canonical Allele Identifier: CA386959598

Gene: P2RX7

Linked Data

• dbSNP Id: rs1210771812
• gnomAD v2: 12-121615178-T-C
• gnomAD v4: 12-121177375-T-C
• MyVariant Identifiers: chr12:g.121615178T>C (hg19) ; chr12:g.121177375T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177375T>C , CM000674.2:g.121177375T>C	GRCh38
NC_000012.11:g.121615178T>C , CM000674.1:g.121615178T>C	GRCh37
NC_000012.10:g.120099561T>C	NCBI36
NG_011471.2:g.49501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1117T>C MANE Select	ENSP00000330696.6:p.Cys373Arg
ENST00000261826.10:c.*570T>C	ENSP00000261826.6:n.*570T>C
ENST00000328963.9:c.1117T>C	ENSP00000330696.6:p.Cys373Arg
ENST00000535250.5:c.1201T>C	ENSP00000442572.2:n.1201T>C
ENST00000535600.2:c.934T>C	ENSP00000442470.1:n.934T>C
ENST00000537312.5:c.*888T>C	ENSP00000438586.1:n.*888T>C
ENST00000538011.5:c.1256T>C	ENSP00000439247.1:n.1256T>C
ENST00000539606.5:c.1340T>C	ENSP00000445325.1:n.1340T>C
ENST00000539695.5:n.1286T>C
ENST00000541022.5:c.907T>C	ENSP00000441230.1:n.907T>C
ENST00000541564.5:c.980T>C	ENSP00000443640.1:n.980T>C
ENST00000541716.5:c.1128T>C	ENSP00000437729.1:n.1128T>C
NM_002562.5:c.1117T>C	NP_002553.3:p.Cys373Arg
NR_033948.1:n.1483T>C
NR_033949.1:n.1399T>C
NR_033950.1:n.1360T>C
NR_033951.1:n.1344T>C
NR_033952.1:n.1271T>C
NR_033953.1:n.1184T>C
NR_033954.1:n.1163T>C
NR_033955.1:n.1123T>C
NR_033956.1:n.1050T>C
XM_011538418.1:c.850T>C	XP_011536720.1:p.Cys284Arg
XM_011538419.1:c.805T>C	XP_011536721.1:p.Cys269Arg
XM_011538420.1:c.250T>C	XP_011536722.1:p.Cys84Arg
XR_945459.1:n.190-14958A>G
XR_945460.1:n.299-14958A>G
XM_011538419.3:c.805T>C	XP_011536721.1:p.Cys269Arg
XM_011538420.3:c.250T>C	XP_011536722.1:p.Cys84Arg
XM_017019364.2:c.757T>C	XP_016874853.1:p.Cys253Arg
XM_017019365.2:c.757T>C	XP_016874854.1:p.Cys253Arg
XM_017019366.2:c.364T>C	XP_016874855.1:p.Cys122Arg
XM_017019367.2:c.364T>C	XP_016874856.1:p.Cys122Arg
XR_001749352.2:n.186+26123A>G
XR_001749353.2:n.304-14958A>G
XR_001749354.2:n.186+26123A>G
XR_945459.3:n.187-14958A>G
XR_945460.3:n.299-14958A>G
NM_002562.6:c.1117T>C MANE Select	NP_002553.3:p.Cys373Arg
NR_033948.2:n.1435T>C
NR_033949.2:n.1351T>C
NR_033950.2:n.1312T>C
NR_033951.2:n.1296T>C
NR_033952.2:n.1223T>C
NR_033953.2:n.1127T>C
NR_033954.2:n.1115T>C
NR_033955.2:n.1075T>C
NR_033956.2:n.1002T>C