Canonical Allele Identifier: CA386959188

Gene: P2RX7

Linked Data

• dbSNP Id: rs1372390997
• gnomAD v2: 12-121615140-G-A
• gnomAD v3: 12-121177337-G-A
• gnomAD v4: 12-121177337-G-A
• MyVariant Identifiers: chr12:g.121615140G>A (hg19) ; chr12:g.121177337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177337G>A , CM000674.2:g.121177337G>A	GRCh38
NC_000012.11:g.121615140G>A , CM000674.1:g.121615140G>A	GRCh37
NC_000012.10:g.120099523G>A	NCBI36
NG_011471.2:g.49463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1079G>A MANE Select	ENSP00000330696.6:p.Ser360Asn
ENST00000261826.10:c.*532G>A	ENSP00000261826.6:n.*532G>A
ENST00000328963.9:c.1079G>A	ENSP00000330696.6:p.Ser360Asn
ENST00000535250.5:c.1163G>A	ENSP00000442572.2:n.1163G>A
ENST00000535600.2:c.896G>A	ENSP00000442470.1:n.896G>A
ENST00000537312.5:c.*850G>A	ENSP00000438586.1:n.*850G>A
ENST00000538011.5:c.1218G>A	ENSP00000439247.1:n.1218G>A
ENST00000539606.5:c.1302G>A	ENSP00000445325.1:n.1302G>A
ENST00000539695.5:n.1248G>A
ENST00000541022.5:c.869G>A	ENSP00000441230.1:n.869G>A
ENST00000541564.5:c.942G>A	ENSP00000443640.1:n.942G>A
ENST00000541716.5:c.1090G>A	ENSP00000437729.1:n.1090G>A
NM_002562.5:c.1079G>A	NP_002553.3:p.Ser360Asn
NR_033948.1:n.1445G>A
NR_033949.1:n.1361G>A
NR_033950.1:n.1322G>A
NR_033951.1:n.1306G>A
NR_033952.1:n.1233G>A
NR_033953.1:n.1146G>A
NR_033954.1:n.1125G>A
NR_033955.1:n.1085G>A
NR_033956.1:n.1012G>A
XM_011538418.1:c.812G>A	XP_011536720.1:p.Ser271Asn
XM_011538419.1:c.767G>A	XP_011536721.1:p.Ser256Asn
XM_011538420.1:c.212G>A	XP_011536722.1:p.Ser71Asn
XR_945459.1:n.190-14920C>T
XR_945460.1:n.299-14920C>T
XM_011538419.3:c.767G>A	XP_011536721.1:p.Ser256Asn
XM_011538420.3:c.212G>A	XP_011536722.1:p.Ser71Asn
XM_017019364.2:c.719G>A	XP_016874853.1:p.Ser240Asn
XM_017019365.2:c.719G>A	XP_016874854.1:p.Ser240Asn
XM_017019366.2:c.326G>A	XP_016874855.1:p.Ser109Asn
XM_017019367.2:c.326G>A	XP_016874856.1:p.Ser109Asn
XR_001749352.2:n.186+26161C>T
XR_001749353.2:n.304-14920C>T
XR_001749354.2:n.186+26161C>T
XR_945459.3:n.187-14920C>T
XR_945460.3:n.299-14920C>T
NM_002562.6:c.1079G>A MANE Select	NP_002553.3:p.Ser360Asn
NR_033948.2:n.1397G>A
NR_033949.2:n.1313G>A
NR_033950.2:n.1274G>A
NR_033951.2:n.1258G>A
NR_033952.2:n.1185G>A
NR_033953.2:n.1089G>A
NR_033954.2:n.1077G>A
NR_033955.2:n.1037G>A
NR_033956.2:n.964G>A