Canonical Allele Identifier: CA482159140

Gene: P2RX7

Linked Data

• dbSNP Id: rs1273331233
• gnomAD v2: 12-121615156-C-A
• gnomAD v3: 12-121177353-C-A
• gnomAD v4: 12-121177353-C-A
• MyVariant Identifiers: chr12:g.121615156C>A (hg19) ; chr12:g.121177353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177353C>A , CM000674.2:g.121177353C>A	GRCh38
NC_000012.11:g.121615156C>A , CM000674.1:g.121615156C>A	GRCh37
NC_000012.10:g.120099539C>A	NCBI36
NG_011471.2:g.49479C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1095C>A MANE Select	ENSP00000330696.6:p.Ser365=
ENST00000261826.10:c.*548C>A	ENSP00000261826.6:n.*548C>A
ENST00000328963.9:c.1095C>A	ENSP00000330696.6:p.Ser365=
ENST00000535250.5:c.1179C>A	ENSP00000442572.2:n.1179C>A
ENST00000535600.2:c.912C>A	ENSP00000442470.1:n.912C>A
ENST00000537312.5:c.*866C>A	ENSP00000438586.1:n.*866C>A
ENST00000538011.5:c.1234C>A	ENSP00000439247.1:n.1234C>A
ENST00000539606.5:c.1318C>A	ENSP00000445325.1:n.1318C>A
ENST00000539695.5:n.1264C>A
ENST00000541022.5:c.885C>A	ENSP00000441230.1:n.885C>A
ENST00000541564.5:c.958C>A	ENSP00000443640.1:n.958C>A
ENST00000541716.5:c.1106C>A	ENSP00000437729.1:n.1106C>A
NM_002562.5:c.1095C>A	NP_002553.3:p.Ser365=
NR_033948.1:n.1461C>A
NR_033949.1:n.1377C>A
NR_033950.1:n.1338C>A
NR_033951.1:n.1322C>A
NR_033952.1:n.1249C>A
NR_033953.1:n.1162C>A
NR_033954.1:n.1141C>A
NR_033955.1:n.1101C>A
NR_033956.1:n.1028C>A
XM_011538418.1:c.828C>A	XP_011536720.1:p.Ser276=
XM_011538419.1:c.783C>A	XP_011536721.1:p.Ser261=
XM_011538420.1:c.228C>A	XP_011536722.1:p.Ser76=
XR_945459.1:n.190-14936G>T
XR_945460.1:n.299-14936G>T
XM_011538419.3:c.783C>A	XP_011536721.1:p.Ser261=
XM_011538420.3:c.228C>A	XP_011536722.1:p.Ser76=
XM_017019364.2:c.735C>A	XP_016874853.1:p.Ser245=
XM_017019365.2:c.735C>A	XP_016874854.1:p.Ser245=
XM_017019366.2:c.342C>A	XP_016874855.1:p.Ser114=
XM_017019367.2:c.342C>A	XP_016874856.1:p.Ser114=
XR_001749352.2:n.186+26145G>T
XR_001749353.2:n.304-14936G>T
XR_001749354.2:n.186+26145G>T
XR_945459.3:n.187-14936G>T
XR_945460.3:n.299-14936G>T
NM_002562.6:c.1095C>A MANE Select	NP_002553.3:p.Ser365=
NR_033948.2:n.1413C>A
NR_033949.2:n.1329C>A
NR_033950.2:n.1290C>A
NR_033951.2:n.1274C>A
NR_033952.2:n.1201C>A
NR_033953.2:n.1105C>A
NR_033954.2:n.1093C>A
NR_033955.2:n.1053C>A
NR_033956.2:n.980C>A