Canonical Allele Identifier: CA386959566

Gene: P2RX7

Linked Data

• dbSNP Id: rs1883331981
• gnomAD v3: 12-121177371-C-A
• gnomAD v4: 12-121177371-C-A
• MyVariant Identifiers: chr12:g.121615174C>A (hg19) ; chr12:g.121177371C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177371C>A , CM000674.2:g.121177371C>A	GRCh38
NC_000012.11:g.121615174C>A , CM000674.1:g.121615174C>A	GRCh37
NC_000012.10:g.120099557C>A	NCBI36
NG_011471.2:g.49497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1113C>A MANE Select	ENSP00000330696.6:p.Cys371Ter
ENST00000261826.10:c.*566C>A	ENSP00000261826.6:n.*566C>A
ENST00000328963.9:c.1113C>A	ENSP00000330696.6:p.Cys371Ter
ENST00000535250.5:c.1197C>A	ENSP00000442572.2:n.1197C>A
ENST00000535600.2:c.930C>A	ENSP00000442470.1:n.930C>A
ENST00000537312.5:c.*884C>A	ENSP00000438586.1:n.*884C>A
ENST00000538011.5:c.1252C>A	ENSP00000439247.1:n.1252C>A
ENST00000539606.5:c.1336C>A	ENSP00000445325.1:n.1336C>A
ENST00000539695.5:n.1282C>A
ENST00000541022.5:c.903C>A	ENSP00000441230.1:n.903C>A
ENST00000541564.5:c.976C>A	ENSP00000443640.1:n.976C>A
ENST00000541716.5:c.1124C>A	ENSP00000437729.1:n.1124C>A
NM_002562.5:c.1113C>A	NP_002553.3:p.Cys371Ter
NR_033948.1:n.1479C>A
NR_033949.1:n.1395C>A
NR_033950.1:n.1356C>A
NR_033951.1:n.1340C>A
NR_033952.1:n.1267C>A
NR_033953.1:n.1180C>A
NR_033954.1:n.1159C>A
NR_033955.1:n.1119C>A
NR_033956.1:n.1046C>A
XM_011538418.1:c.846C>A	XP_011536720.1:p.Cys282Ter
XM_011538419.1:c.801C>A	XP_011536721.1:p.Cys267Ter
XM_011538420.1:c.246C>A	XP_011536722.1:p.Cys82Ter
XR_945459.1:n.190-14954G>T
XR_945460.1:n.299-14954G>T
XM_011538419.3:c.801C>A	XP_011536721.1:p.Cys267Ter
XM_011538420.3:c.246C>A	XP_011536722.1:p.Cys82Ter
XM_017019364.2:c.753C>A	XP_016874853.1:p.Cys251Ter
XM_017019365.2:c.753C>A	XP_016874854.1:p.Cys251Ter
XM_017019366.2:c.360C>A	XP_016874855.1:p.Cys120Ter
XM_017019367.2:c.360C>A	XP_016874856.1:p.Cys120Ter
XR_001749352.2:n.186+26127G>T
XR_001749353.2:n.304-14954G>T
XR_001749354.2:n.186+26127G>T
XR_945459.3:n.187-14954G>T
XR_945460.3:n.299-14954G>T
NM_002562.6:c.1113C>A MANE Select	NP_002553.3:p.Cys371Ter
NR_033948.2:n.1431C>A
NR_033949.2:n.1347C>A
NR_033950.2:n.1308C>A
NR_033951.2:n.1292C>A
NR_033952.2:n.1219C>A
NR_033953.2:n.1123C>A
NR_033954.2:n.1111C>A
NR_033955.2:n.1071C>A
NR_033956.2:n.998C>A