Canonical Allele Identifier: CA386960019

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615220A>C (hg19) ; chr12:g.121177417A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177417A>C , CM000674.2:g.121177417A>C	GRCh38
NC_000012.11:g.121615220A>C , CM000674.1:g.121615220A>C	GRCh37
NC_000012.10:g.120099603A>C	NCBI36
NG_011471.2:g.49543A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1159A>C MANE Select	ENSP00000330696.6:p.Lys387Gln
ENST00000261826.10:c.*612A>C	ENSP00000261826.6:n.*612A>C
ENST00000328963.9:c.1159A>C	ENSP00000330696.6:p.Lys387Gln
ENST00000535250.5:c.1243A>C	ENSP00000442572.2:n.1243A>C
ENST00000535600.2:c.976A>C	ENSP00000442470.1:n.976A>C
ENST00000537312.5:c.*930A>C	ENSP00000438586.1:n.*930A>C
ENST00000538011.5:c.1298A>C	ENSP00000439247.1:n.1298A>C
ENST00000539606.5:c.1382A>C	ENSP00000445325.1:n.1382A>C
ENST00000539695.5:n.1328A>C
ENST00000541022.5:c.949A>C	ENSP00000441230.1:n.949A>C
ENST00000541564.5:c.1022A>C	ENSP00000443640.1:n.1022A>C
ENST00000541716.5:c.1170A>C	ENSP00000437729.1:n.1170A>C
NM_002562.5:c.1159A>C	NP_002553.3:p.Lys387Gln
NR_033948.1:n.1525A>C
NR_033949.1:n.1441A>C
NR_033950.1:n.1402A>C
NR_033951.1:n.1386A>C
NR_033952.1:n.1313A>C
NR_033953.1:n.1226A>C
NR_033954.1:n.1205A>C
NR_033955.1:n.1165A>C
NR_033956.1:n.1092A>C
XM_011538418.1:c.892A>C	XP_011536720.1:p.Lys298Gln
XM_011538419.1:c.847A>C	XP_011536721.1:p.Lys283Gln
XM_011538420.1:c.292A>C	XP_011536722.1:p.Lys98Gln
XR_945459.1:n.190-15000T>G
XR_945460.1:n.299-15000T>G
XM_011538419.3:c.847A>C	XP_011536721.1:p.Lys283Gln
XM_011538420.3:c.292A>C	XP_011536722.1:p.Lys98Gln
XM_017019364.2:c.799A>C	XP_016874853.1:p.Lys267Gln
XM_017019365.2:c.799A>C	XP_016874854.1:p.Lys267Gln
XM_017019366.2:c.406A>C	XP_016874855.1:p.Lys136Gln
XM_017019367.2:c.406A>C	XP_016874856.1:p.Lys136Gln
XR_001749352.2:n.186+26081T>G
XR_001749353.2:n.304-15000T>G
XR_001749354.2:n.186+26081T>G
XR_945459.3:n.187-15000T>G
XR_945460.3:n.299-15000T>G
NM_002562.6:c.1159A>C MANE Select	NP_002553.3:p.Lys387Gln
NR_033948.2:n.1477A>C
NR_033949.2:n.1393A>C
NR_033950.2:n.1354A>C
NR_033951.2:n.1338A>C
NR_033952.2:n.1265A>C
NR_033953.2:n.1169A>C
NR_033954.2:n.1157A>C
NR_033955.2:n.1117A>C
NR_033956.2:n.1044A>C