Canonical Allele Identifier: CA386959210

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177338-T-G
• MyVariant Identifiers: chr12:g.121615141T>G (hg19) ; chr12:g.121177338T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177338T>G , CM000674.2:g.121177338T>G	GRCh38
NC_000012.11:g.121615141T>G , CM000674.1:g.121615141T>G	GRCh37
NC_000012.10:g.120099524T>G	NCBI36
NG_011471.2:g.49464T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1080T>G MANE Select	ENSP00000330696.6:p.Ser360Arg
ENST00000261826.10:c.*533T>G	ENSP00000261826.6:n.*533T>G
ENST00000328963.9:c.1080T>G	ENSP00000330696.6:p.Ser360Arg
ENST00000535250.5:c.1164T>G	ENSP00000442572.2:n.1164T>G
ENST00000535600.2:c.897T>G	ENSP00000442470.1:n.897T>G
ENST00000537312.5:c.*851T>G	ENSP00000438586.1:n.*851T>G
ENST00000538011.5:c.1219T>G	ENSP00000439247.1:n.1219T>G
ENST00000539606.5:c.1303T>G	ENSP00000445325.1:n.1303T>G
ENST00000539695.5:n.1249T>G
ENST00000541022.5:c.870T>G	ENSP00000441230.1:n.870T>G
ENST00000541564.5:c.943T>G	ENSP00000443640.1:n.943T>G
ENST00000541716.5:c.1091T>G	ENSP00000437729.1:n.1091T>G
NM_002562.5:c.1080T>G	NP_002553.3:p.Ser360Arg
NR_033948.1:n.1446T>G
NR_033949.1:n.1362T>G
NR_033950.1:n.1323T>G
NR_033951.1:n.1307T>G
NR_033952.1:n.1234T>G
NR_033953.1:n.1147T>G
NR_033954.1:n.1126T>G
NR_033955.1:n.1086T>G
NR_033956.1:n.1013T>G
XM_011538418.1:c.813T>G	XP_011536720.1:p.Ser271Arg
XM_011538419.1:c.768T>G	XP_011536721.1:p.Ser256Arg
XM_011538420.1:c.213T>G	XP_011536722.1:p.Ser71Arg
XR_945459.1:n.190-14921A>C
XR_945460.1:n.299-14921A>C
XM_011538419.3:c.768T>G	XP_011536721.1:p.Ser256Arg
XM_011538420.3:c.213T>G	XP_011536722.1:p.Ser71Arg
XM_017019364.2:c.720T>G	XP_016874853.1:p.Ser240Arg
XM_017019365.2:c.720T>G	XP_016874854.1:p.Ser240Arg
XM_017019366.2:c.327T>G	XP_016874855.1:p.Ser109Arg
XM_017019367.2:c.327T>G	XP_016874856.1:p.Ser109Arg
XR_001749352.2:n.186+26160A>C
XR_001749353.2:n.304-14921A>C
XR_001749354.2:n.186+26160A>C
XR_945459.3:n.187-14921A>C
XR_945460.3:n.299-14921A>C
NM_002562.6:c.1080T>G MANE Select	NP_002553.3:p.Ser360Arg
NR_033948.2:n.1398T>G
NR_033949.2:n.1314T>G
NR_033950.2:n.1275T>G
NR_033951.2:n.1259T>G
NR_033952.2:n.1186T>G
NR_033953.2:n.1090T>G
NR_033954.2:n.1078T>G
NR_033955.2:n.1038T>G
NR_033956.2:n.965T>G