Canonical Allele Identifier: CA684479646

Gene: P2RX7

Linked Data

• dbSNP Id: rs1302392532
• MyVariant Identifiers: chr12:g.121615201del (hg19) ; chr12:g.121177398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177398del , CM000674.2:g.121177398del	GRCh38
NC_000012.11:g.121615201del , CM000674.1:g.121615201del	GRCh37
NC_000012.10:g.120099584del	NCBI36
NG_011471.2:g.49524del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1140del MANE Select	ENSP00000330696.6:p.Asn380LysfsTer19
ENST00000261826.10:c.*593del	ENSP00000261826.6:n.*593del
ENST00000328963.9:c.1140del	ENSP00000330696.6:p.Asn380LysfsTer19
ENST00000535250.5:c.1224del	ENSP00000442572.2:n.1224del
ENST00000535600.2:c.957del	ENSP00000442470.1:n.957del
ENST00000537312.5:c.*911del	ENSP00000438586.1:n.*911del
ENST00000538011.5:c.1279del	ENSP00000439247.1:n.1279del
ENST00000539606.5:c.1363del	ENSP00000445325.1:n.1363del
ENST00000539695.5:n.1309del
ENST00000541022.5:c.930del	ENSP00000441230.1:n.930del
ENST00000541564.5:c.1003del	ENSP00000443640.1:n.1003del
ENST00000541716.5:c.1151del	ENSP00000437729.1:n.1151del
NM_002562.5:c.1140del	NP_002553.3:p.Asn380LysfsTer19
NR_033948.1:n.1506del
NR_033949.1:n.1422del
NR_033950.1:n.1383del
NR_033951.1:n.1367del
NR_033952.1:n.1294del
NR_033953.1:n.1207del
NR_033954.1:n.1186del
NR_033955.1:n.1146del
NR_033956.1:n.1073del
XM_011538418.1:c.873del	XP_011536720.1:p.Asn291LysfsTer19
XM_011538419.1:c.828del	XP_011536721.1:p.Asn276LysfsTer19
XM_011538420.1:c.273del	XP_011536722.1:p.Asn91LysfsTer19
XR_945459.1:n.190-14981del
XR_945460.1:n.299-14981del
XM_011538419.3:c.828del	XP_011536721.1:p.Asn276LysfsTer19
XM_011538420.3:c.273del	XP_011536722.1:p.Asn91LysfsTer19
XM_017019364.2:c.780del	XP_016874853.1:p.Asn260LysfsTer19
XM_017019365.2:c.780del	XP_016874854.1:p.Asn260LysfsTer19
XM_017019366.2:c.387del	XP_016874855.1:p.Asn129LysfsTer19
XM_017019367.2:c.387del	XP_016874856.1:p.Asn129LysfsTer19
XR_001749352.2:n.186+26100del
XR_001749353.2:n.304-14981del
XR_001749354.2:n.186+26100del
XR_945459.3:n.187-14981del
XR_945460.3:n.299-14981del
NM_002562.6:c.1140del MANE Select	NP_002553.3:p.Asn380LysfsTer19
NR_033948.2:n.1458del
NR_033949.2:n.1374del
NR_033950.2:n.1335del
NR_033951.2:n.1319del
NR_033952.2:n.1246del
NR_033953.2:n.1150del
NR_033954.2:n.1138del
NR_033955.2:n.1098del
NR_033956.2:n.1025del