Canonical Allele Identifier: CA386960119

Gene: P2RX7

Linked Data

• dbSNP Id: rs1411899324
• gnomAD v2: 12-121615229-T-A
• MyVariant Identifiers: chr12:g.121615229T>A (hg19) ; chr12:g.121177426T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177426T>A , CM000674.2:g.121177426T>A	GRCh38
NC_000012.11:g.121615229T>A , CM000674.1:g.121615229T>A	GRCh37
NC_000012.10:g.120099612T>A	NCBI36
NG_011471.2:g.49552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1168T>A MANE Select	ENSP00000330696.6:p.Ser390Thr
ENST00000261826.10:c.*621T>A	ENSP00000261826.6:n.*621T>A
ENST00000328963.9:c.1168T>A	ENSP00000330696.6:p.Ser390Thr
ENST00000535250.5:c.1252T>A	ENSP00000442572.2:n.1252T>A
ENST00000535600.2:c.985T>A	ENSP00000442470.1:n.985T>A
ENST00000537312.5:c.*939T>A	ENSP00000438586.1:n.*939T>A
ENST00000538011.5:c.1307T>A	ENSP00000439247.1:n.1307T>A
ENST00000539606.5:c.1391T>A	ENSP00000445325.1:n.1391T>A
ENST00000539695.5:n.1337T>A
ENST00000541022.5:c.958T>A	ENSP00000441230.1:n.958T>A
ENST00000541564.5:c.1031T>A	ENSP00000443640.1:n.1031T>A
ENST00000541716.5:c.1179T>A	ENSP00000437729.1:n.1179T>A
NM_002562.5:c.1168T>A	NP_002553.3:p.Ser390Thr
NR_033948.1:n.1534T>A
NR_033949.1:n.1450T>A
NR_033950.1:n.1411T>A
NR_033951.1:n.1395T>A
NR_033952.1:n.1322T>A
NR_033953.1:n.1235T>A
NR_033954.1:n.1214T>A
NR_033955.1:n.1174T>A
NR_033956.1:n.1101T>A
XM_011538418.1:c.901T>A	XP_011536720.1:p.Ser301Thr
XM_011538419.1:c.856T>A	XP_011536721.1:p.Ser286Thr
XM_011538420.1:c.301T>A	XP_011536722.1:p.Ser101Thr
XR_945459.1:n.190-15009A>T
XR_945460.1:n.299-15009A>T
XM_011538419.3:c.856T>A	XP_011536721.1:p.Ser286Thr
XM_011538420.3:c.301T>A	XP_011536722.1:p.Ser101Thr
XM_017019364.2:c.808T>A	XP_016874853.1:p.Ser270Thr
XM_017019365.2:c.808T>A	XP_016874854.1:p.Ser270Thr
XM_017019366.2:c.415T>A	XP_016874855.1:p.Ser139Thr
XM_017019367.2:c.415T>A	XP_016874856.1:p.Ser139Thr
XR_001749352.2:n.186+26072A>T
XR_001749353.2:n.304-15009A>T
XR_001749354.2:n.186+26072A>T
XR_945459.3:n.187-15009A>T
XR_945460.3:n.299-15009A>T
NM_002562.6:c.1168T>A MANE Select	NP_002553.3:p.Ser390Thr
NR_033948.2:n.1486T>A
NR_033949.2:n.1402T>A
NR_033950.2:n.1363T>A
NR_033951.2:n.1347T>A
NR_033952.2:n.1274T>A
NR_033953.2:n.1178T>A
NR_033954.2:n.1166T>A
NR_033955.2:n.1126T>A
NR_033956.2:n.1053T>A