Canonical Allele Identifier: CA386959180

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177336-A-C
• MyVariant Identifiers: chr12:g.121615139A>C (hg19) ; chr12:g.121177336A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177336A>C , CM000674.2:g.121177336A>C	GRCh38
NC_000012.11:g.121615139A>C , CM000674.1:g.121615139A>C	GRCh37
NC_000012.10:g.120099522A>C	NCBI36
NG_011471.2:g.49462A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1078A>C MANE Select	ENSP00000330696.6:p.Ser360Arg
ENST00000261826.10:c.*531A>C	ENSP00000261826.6:n.*531A>C
ENST00000328963.9:c.1078A>C	ENSP00000330696.6:p.Ser360Arg
ENST00000535250.5:c.1162A>C	ENSP00000442572.2:n.1162A>C
ENST00000535600.2:c.895A>C	ENSP00000442470.1:n.895A>C
ENST00000537312.5:c.*849A>C	ENSP00000438586.1:n.*849A>C
ENST00000538011.5:c.1217A>C	ENSP00000439247.1:n.1217A>C
ENST00000539606.5:c.1301A>C	ENSP00000445325.1:n.1301A>C
ENST00000539695.5:n.1247A>C
ENST00000541022.5:c.868A>C	ENSP00000441230.1:n.868A>C
ENST00000541564.5:c.941A>C	ENSP00000443640.1:n.941A>C
ENST00000541716.5:c.1089A>C	ENSP00000437729.1:n.1089A>C
NM_002562.5:c.1078A>C	NP_002553.3:p.Ser360Arg
NR_033948.1:n.1444A>C
NR_033949.1:n.1360A>C
NR_033950.1:n.1321A>C
NR_033951.1:n.1305A>C
NR_033952.1:n.1232A>C
NR_033953.1:n.1145A>C
NR_033954.1:n.1124A>C
NR_033955.1:n.1084A>C
NR_033956.1:n.1011A>C
XM_011538418.1:c.811A>C	XP_011536720.1:p.Ser271Arg
XM_011538419.1:c.766A>C	XP_011536721.1:p.Ser256Arg
XM_011538420.1:c.211A>C	XP_011536722.1:p.Ser71Arg
XR_945459.1:n.190-14919T>G
XR_945460.1:n.299-14919T>G
XM_011538419.3:c.766A>C	XP_011536721.1:p.Ser256Arg
XM_011538420.3:c.211A>C	XP_011536722.1:p.Ser71Arg
XM_017019364.2:c.718A>C	XP_016874853.1:p.Ser240Arg
XM_017019365.2:c.718A>C	XP_016874854.1:p.Ser240Arg
XM_017019366.2:c.325A>C	XP_016874855.1:p.Ser109Arg
XM_017019367.2:c.325A>C	XP_016874856.1:p.Ser109Arg
XR_001749352.2:n.186+26162T>G
XR_001749353.2:n.304-14919T>G
XR_001749354.2:n.186+26162T>G
XR_945459.3:n.187-14919T>G
XR_945460.3:n.299-14919T>G
NM_002562.6:c.1078A>C MANE Select	NP_002553.3:p.Ser360Arg
NR_033948.2:n.1396A>C
NR_033949.2:n.1312A>C
NR_033950.2:n.1273A>C
NR_033951.2:n.1257A>C
NR_033952.2:n.1184A>C
NR_033953.2:n.1088A>C
NR_033954.2:n.1076A>C
NR_033955.2:n.1036A>C
NR_033956.2:n.963A>C