Canonical Allele Identifier: CA386959339

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177348-C-A
• MyVariant Identifiers: chr12:g.121615151C>A (hg19) ; chr12:g.121177348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177348C>A , CM000674.2:g.121177348C>A	GRCh38
NC_000012.11:g.121615151C>A , CM000674.1:g.121615151C>A	GRCh37
NC_000012.10:g.120099534C>A	NCBI36
NG_011471.2:g.49474C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1090C>A MANE Select	ENSP00000330696.6:p.Arg364Ser
ENST00000261826.10:c.*543C>A	ENSP00000261826.6:n.*543C>A
ENST00000328963.9:c.1090C>A	ENSP00000330696.6:p.Arg364Ser
ENST00000535250.5:c.1174C>A	ENSP00000442572.2:n.1174C>A
ENST00000535600.2:c.907C>A	ENSP00000442470.1:n.907C>A
ENST00000537312.5:c.*861C>A	ENSP00000438586.1:n.*861C>A
ENST00000538011.5:c.1229C>A	ENSP00000439247.1:n.1229C>A
ENST00000539606.5:c.1313C>A	ENSP00000445325.1:n.1313C>A
ENST00000539695.5:n.1259C>A
ENST00000541022.5:c.880C>A	ENSP00000441230.1:n.880C>A
ENST00000541564.5:c.953C>A	ENSP00000443640.1:n.953C>A
ENST00000541716.5:c.1101C>A	ENSP00000437729.1:n.1101C>A
NM_002562.5:c.1090C>A	NP_002553.3:p.Arg364Ser
NR_033948.1:n.1456C>A
NR_033949.1:n.1372C>A
NR_033950.1:n.1333C>A
NR_033951.1:n.1317C>A
NR_033952.1:n.1244C>A
NR_033953.1:n.1157C>A
NR_033954.1:n.1136C>A
NR_033955.1:n.1096C>A
NR_033956.1:n.1023C>A
XM_011538418.1:c.823C>A	XP_011536720.1:p.Arg275Ser
XM_011538419.1:c.778C>A	XP_011536721.1:p.Arg260Ser
XM_011538420.1:c.223C>A	XP_011536722.1:p.Arg75Ser
XR_945459.1:n.190-14931G>T
XR_945460.1:n.299-14931G>T
XM_011538419.3:c.778C>A	XP_011536721.1:p.Arg260Ser
XM_011538420.3:c.223C>A	XP_011536722.1:p.Arg75Ser
XM_017019364.2:c.730C>A	XP_016874853.1:p.Arg244Ser
XM_017019365.2:c.730C>A	XP_016874854.1:p.Arg244Ser
XM_017019366.2:c.337C>A	XP_016874855.1:p.Arg113Ser
XM_017019367.2:c.337C>A	XP_016874856.1:p.Arg113Ser
XR_001749352.2:n.186+26150G>T
XR_001749353.2:n.304-14931G>T
XR_001749354.2:n.186+26150G>T
XR_945459.3:n.187-14931G>T
XR_945460.3:n.299-14931G>T
NM_002562.6:c.1090C>A MANE Select	NP_002553.3:p.Arg364Ser
NR_033948.2:n.1408C>A
NR_033949.2:n.1324C>A
NR_033950.2:n.1285C>A
NR_033951.2:n.1269C>A
NR_033952.2:n.1196C>A
NR_033953.2:n.1100C>A
NR_033954.2:n.1088C>A
NR_033955.2:n.1048C>A
NR_033956.2:n.975C>A