Canonical Allele Identifier: CA386960098

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615226G>C (hg19) ; chr12:g.121177423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177423G>C , CM000674.2:g.121177423G>C	GRCh38
NC_000012.11:g.121615226G>C , CM000674.1:g.121615226G>C	GRCh37
NC_000012.10:g.120099609G>C	NCBI36
NG_011471.2:g.49549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1165G>C MANE Select	ENSP00000330696.6:p.Glu389Gln
ENST00000261826.10:c.*618G>C	ENSP00000261826.6:n.*618G>C
ENST00000328963.9:c.1165G>C	ENSP00000330696.6:p.Glu389Gln
ENST00000535250.5:c.1249G>C	ENSP00000442572.2:n.1249G>C
ENST00000535600.2:c.982G>C	ENSP00000442470.1:n.982G>C
ENST00000537312.5:c.*936G>C	ENSP00000438586.1:n.*936G>C
ENST00000538011.5:c.1304G>C	ENSP00000439247.1:n.1304G>C
ENST00000539606.5:c.1388G>C	ENSP00000445325.1:n.1388G>C
ENST00000539695.5:n.1334G>C
ENST00000541022.5:c.955G>C	ENSP00000441230.1:n.955G>C
ENST00000541564.5:c.1028G>C	ENSP00000443640.1:n.1028G>C
ENST00000541716.5:c.1176G>C	ENSP00000437729.1:n.1176G>C
NM_002562.5:c.1165G>C	NP_002553.3:p.Glu389Gln
NR_033948.1:n.1531G>C
NR_033949.1:n.1447G>C
NR_033950.1:n.1408G>C
NR_033951.1:n.1392G>C
NR_033952.1:n.1319G>C
NR_033953.1:n.1232G>C
NR_033954.1:n.1211G>C
NR_033955.1:n.1171G>C
NR_033956.1:n.1098G>C
XM_011538418.1:c.898G>C	XP_011536720.1:p.Glu300Gln
XM_011538419.1:c.853G>C	XP_011536721.1:p.Glu285Gln
XM_011538420.1:c.298G>C	XP_011536722.1:p.Glu100Gln
XR_945459.1:n.190-15006C>G
XR_945460.1:n.299-15006C>G
XM_011538419.3:c.853G>C	XP_011536721.1:p.Glu285Gln
XM_011538420.3:c.298G>C	XP_011536722.1:p.Glu100Gln
XM_017019364.2:c.805G>C	XP_016874853.1:p.Glu269Gln
XM_017019365.2:c.805G>C	XP_016874854.1:p.Glu269Gln
XM_017019366.2:c.412G>C	XP_016874855.1:p.Glu138Gln
XM_017019367.2:c.412G>C	XP_016874856.1:p.Glu138Gln
XR_001749352.2:n.186+26075C>G
XR_001749353.2:n.304-15006C>G
XR_001749354.2:n.186+26075C>G
XR_945459.3:n.187-15006C>G
XR_945460.3:n.299-15006C>G
NM_002562.6:c.1165G>C MANE Select	NP_002553.3:p.Glu389Gln
NR_033948.2:n.1483G>C
NR_033949.2:n.1399G>C
NR_033950.2:n.1360G>C
NR_033951.2:n.1344G>C
NR_033952.2:n.1271G>C
NR_033953.2:n.1175G>C
NR_033954.2:n.1163G>C
NR_033955.2:n.1123G>C
NR_033956.2:n.1050G>C