Canonical Allele Identifier: CA386959848

Gene: P2RX7

Linked Data

• dbSNP Id: rs1474867753
• gnomAD v2: 12-121615200-A-G
• gnomAD v4: 12-121177397-A-G
• MyVariant Identifiers: chr12:g.121615200A>G (hg19) ; chr12:g.121177397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177397A>G , CM000674.2:g.121177397A>G	GRCh38
NC_000012.11:g.121615200A>G , CM000674.1:g.121615200A>G	GRCh37
NC_000012.10:g.120099583A>G	NCBI36
NG_011471.2:g.49523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1139A>G MANE Select	ENSP00000330696.6:p.Asn380Ser
ENST00000261826.10:c.*592A>G	ENSP00000261826.6:n.*592A>G
ENST00000328963.9:c.1139A>G	ENSP00000330696.6:p.Asn380Ser
ENST00000535250.5:c.1223A>G	ENSP00000442572.2:n.1223A>G
ENST00000535600.2:c.956A>G	ENSP00000442470.1:n.956A>G
ENST00000537312.5:c.*910A>G	ENSP00000438586.1:n.*910A>G
ENST00000538011.5:c.1278A>G	ENSP00000439247.1:n.1278A>G
ENST00000539606.5:c.1362A>G	ENSP00000445325.1:n.1362A>G
ENST00000539695.5:n.1308A>G
ENST00000541022.5:c.929A>G	ENSP00000441230.1:n.929A>G
ENST00000541564.5:c.1002A>G	ENSP00000443640.1:n.1002A>G
ENST00000541716.5:c.1150A>G	ENSP00000437729.1:n.1150A>G
NM_002562.5:c.1139A>G	NP_002553.3:p.Asn380Ser
NR_033948.1:n.1505A>G
NR_033949.1:n.1421A>G
NR_033950.1:n.1382A>G
NR_033951.1:n.1366A>G
NR_033952.1:n.1293A>G
NR_033953.1:n.1206A>G
NR_033954.1:n.1185A>G
NR_033955.1:n.1145A>G
NR_033956.1:n.1072A>G
XM_011538418.1:c.872A>G	XP_011536720.1:p.Asn291Ser
XM_011538419.1:c.827A>G	XP_011536721.1:p.Asn276Ser
XM_011538420.1:c.272A>G	XP_011536722.1:p.Asn91Ser
XR_945459.1:n.190-14980T>C
XR_945460.1:n.299-14980T>C
XM_011538419.3:c.827A>G	XP_011536721.1:p.Asn276Ser
XM_011538420.3:c.272A>G	XP_011536722.1:p.Asn91Ser
XM_017019364.2:c.779A>G	XP_016874853.1:p.Asn260Ser
XM_017019365.2:c.779A>G	XP_016874854.1:p.Asn260Ser
XM_017019366.2:c.386A>G	XP_016874855.1:p.Asn129Ser
XM_017019367.2:c.386A>G	XP_016874856.1:p.Asn129Ser
XR_001749352.2:n.186+26101T>C
XR_001749353.2:n.304-14980T>C
XR_001749354.2:n.186+26101T>C
XR_945459.3:n.187-14980T>C
XR_945460.3:n.299-14980T>C
NM_002562.6:c.1139A>G MANE Select	NP_002553.3:p.Asn380Ser
NR_033948.2:n.1457A>G
NR_033949.2:n.1373A>G
NR_033950.2:n.1334A>G
NR_033951.2:n.1318A>G
NR_033952.2:n.1245A>G
NR_033953.2:n.1149A>G
NR_033954.2:n.1137A>G
NR_033955.2:n.1097A>G
NR_033956.2:n.1024A>G