Canonical Allele Identifier: CA482159154

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177377-C-T
• MyVariant Identifiers: chr12:g.121615180C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177377C>T , CM000674.2:g.121177377C>T	GRCh38
NC_000012.11:g.121615180C>T , CM000674.1:g.121615180C>T	GRCh37
NC_000012.10:g.120099563C>T	NCBI36
NG_011471.2:g.49503C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1119C>T MANE Select	ENSP00000330696.6:p.Cys373=
ENST00000261826.10:c.*572C>T	ENSP00000261826.6:n.*572C>T
ENST00000328963.9:c.1119C>T	ENSP00000330696.6:p.Cys373=
ENST00000535250.5:c.1203C>T	ENSP00000442572.2:n.1203C>T
ENST00000535600.2:c.936C>T	ENSP00000442470.1:n.936C>T
ENST00000537312.5:c.*890C>T	ENSP00000438586.1:n.*890C>T
ENST00000538011.5:c.1258C>T	ENSP00000439247.1:n.1258C>T
ENST00000539606.5:c.1342C>T	ENSP00000445325.1:n.1342C>T
ENST00000539695.5:n.1288C>T
ENST00000541022.5:c.909C>T	ENSP00000441230.1:n.909C>T
ENST00000541564.5:c.982C>T	ENSP00000443640.1:n.982C>T
ENST00000541716.5:c.1130C>T	ENSP00000437729.1:n.1130C>T
NM_002562.5:c.1119C>T	NP_002553.3:p.Cys373=
NR_033948.1:n.1485C>T
NR_033949.1:n.1401C>T
NR_033950.1:n.1362C>T
NR_033951.1:n.1346C>T
NR_033952.1:n.1273C>T
NR_033953.1:n.1186C>T
NR_033954.1:n.1165C>T
NR_033955.1:n.1125C>T
NR_033956.1:n.1052C>T
XM_011538418.1:c.852C>T	XP_011536720.1:p.Cys284=
XM_011538419.1:c.807C>T	XP_011536721.1:p.Cys269=
XM_011538420.1:c.252C>T	XP_011536722.1:p.Cys84=
XR_945459.1:n.190-14960G>A
XR_945460.1:n.299-14960G>A
XM_011538419.3:c.807C>T	XP_011536721.1:p.Cys269=
XM_011538420.3:c.252C>T	XP_011536722.1:p.Cys84=
XM_017019364.2:c.759C>T	XP_016874853.1:p.Cys253=
XM_017019365.2:c.759C>T	XP_016874854.1:p.Cys253=
XM_017019366.2:c.366C>T	XP_016874855.1:p.Cys122=
XM_017019367.2:c.366C>T	XP_016874856.1:p.Cys122=
XR_001749352.2:n.186+26121G>A
XR_001749353.2:n.304-14960G>A
XR_001749354.2:n.186+26121G>A
XR_945459.3:n.187-14960G>A
XR_945460.3:n.299-14960G>A
NM_002562.6:c.1119C>T MANE Select	NP_002553.3:p.Cys373=
NR_033948.2:n.1437C>T
NR_033949.2:n.1353C>T
NR_033950.2:n.1314C>T
NR_033951.2:n.1298C>T
NR_033952.2:n.1225C>T
NR_033953.2:n.1129C>T
NR_033954.2:n.1117C>T
NR_033955.2:n.1077C>T
NR_033956.2:n.1004C>T