Canonical Allele Identifier: CA386960115

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615228G>C (hg19) ; chr12:g.121177425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177425G>C , CM000674.2:g.121177425G>C	GRCh38
NC_000012.11:g.121615228G>C , CM000674.1:g.121615228G>C	GRCh37
NC_000012.10:g.120099611G>C	NCBI36
NG_011471.2:g.49551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1167G>C MANE Select	ENSP00000330696.6:p.Glu389Asp
ENST00000261826.10:c.*620G>C	ENSP00000261826.6:n.*620G>C
ENST00000328963.9:c.1167G>C	ENSP00000330696.6:p.Glu389Asp
ENST00000535250.5:c.1251G>C	ENSP00000442572.2:n.1251G>C
ENST00000535600.2:c.984G>C	ENSP00000442470.1:n.984G>C
ENST00000537312.5:c.*938G>C	ENSP00000438586.1:n.*938G>C
ENST00000538011.5:c.1306G>C	ENSP00000439247.1:n.1306G>C
ENST00000539606.5:c.1390G>C	ENSP00000445325.1:n.1390G>C
ENST00000539695.5:n.1336G>C
ENST00000541022.5:c.957G>C	ENSP00000441230.1:n.957G>C
ENST00000541564.5:c.1030G>C	ENSP00000443640.1:n.1030G>C
ENST00000541716.5:c.1178G>C	ENSP00000437729.1:n.1178G>C
NM_002562.5:c.1167G>C	NP_002553.3:p.Glu389Asp
NR_033948.1:n.1533G>C
NR_033949.1:n.1449G>C
NR_033950.1:n.1410G>C
NR_033951.1:n.1394G>C
NR_033952.1:n.1321G>C
NR_033953.1:n.1234G>C
NR_033954.1:n.1213G>C
NR_033955.1:n.1173G>C
NR_033956.1:n.1100G>C
XM_011538418.1:c.900G>C	XP_011536720.1:p.Glu300Asp
XM_011538419.1:c.855G>C	XP_011536721.1:p.Glu285Asp
XM_011538420.1:c.300G>C	XP_011536722.1:p.Glu100Asp
XR_945459.1:n.190-15008C>G
XR_945460.1:n.299-15008C>G
XM_011538419.3:c.855G>C	XP_011536721.1:p.Glu285Asp
XM_011538420.3:c.300G>C	XP_011536722.1:p.Glu100Asp
XM_017019364.2:c.807G>C	XP_016874853.1:p.Glu269Asp
XM_017019365.2:c.807G>C	XP_016874854.1:p.Glu269Asp
XM_017019366.2:c.414G>C	XP_016874855.1:p.Glu138Asp
XM_017019367.2:c.414G>C	XP_016874856.1:p.Glu138Asp
XR_001749352.2:n.186+26073C>G
XR_001749353.2:n.304-15008C>G
XR_001749354.2:n.186+26073C>G
XR_945459.3:n.187-15008C>G
XR_945460.3:n.299-15008C>G
NM_002562.6:c.1167G>C MANE Select	NP_002553.3:p.Glu389Asp
NR_033948.2:n.1485G>C
NR_033949.2:n.1401G>C
NR_033950.2:n.1362G>C
NR_033951.2:n.1346G>C
NR_033952.2:n.1273G>C
NR_033953.2:n.1177G>C
NR_033954.2:n.1165G>C
NR_033955.2:n.1125G>C
NR_033956.2:n.1052G>C