Canonical Allele Identifier: CA386960017

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615219G>T (hg19) ; chr12:g.121177416G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177416G>T , CM000674.2:g.121177416G>T	GRCh38
NC_000012.11:g.121615219G>T , CM000674.1:g.121615219G>T	GRCh37
NC_000012.10:g.120099602G>T	NCBI36
NG_011471.2:g.49542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1158G>T MANE Select	ENSP00000330696.6:p.Lys386Asn
ENST00000261826.10:c.*611G>T	ENSP00000261826.6:n.*611G>T
ENST00000328963.9:c.1158G>T	ENSP00000330696.6:p.Lys386Asn
ENST00000535250.5:c.1242G>T	ENSP00000442572.2:n.1242G>T
ENST00000535600.2:c.975G>T	ENSP00000442470.1:n.975G>T
ENST00000537312.5:c.*929G>T	ENSP00000438586.1:n.*929G>T
ENST00000538011.5:c.1297G>T	ENSP00000439247.1:n.1297G>T
ENST00000539606.5:c.1381G>T	ENSP00000445325.1:n.1381G>T
ENST00000539695.5:n.1327G>T
ENST00000541022.5:c.948G>T	ENSP00000441230.1:n.948G>T
ENST00000541564.5:c.1021G>T	ENSP00000443640.1:n.1021G>T
ENST00000541716.5:c.1169G>T	ENSP00000437729.1:n.1169G>T
NM_002562.5:c.1158G>T	NP_002553.3:p.Lys386Asn
NR_033948.1:n.1524G>T
NR_033949.1:n.1440G>T
NR_033950.1:n.1401G>T
NR_033951.1:n.1385G>T
NR_033952.1:n.1312G>T
NR_033953.1:n.1225G>T
NR_033954.1:n.1204G>T
NR_033955.1:n.1164G>T
NR_033956.1:n.1091G>T
XM_011538418.1:c.891G>T	XP_011536720.1:p.Lys297Asn
XM_011538419.1:c.846G>T	XP_011536721.1:p.Lys282Asn
XM_011538420.1:c.291G>T	XP_011536722.1:p.Lys97Asn
XR_945459.1:n.190-14999C>A
XR_945460.1:n.299-14999C>A
XM_011538419.3:c.846G>T	XP_011536721.1:p.Lys282Asn
XM_011538420.3:c.291G>T	XP_011536722.1:p.Lys97Asn
XM_017019364.2:c.798G>T	XP_016874853.1:p.Lys266Asn
XM_017019365.2:c.798G>T	XP_016874854.1:p.Lys266Asn
XM_017019366.2:c.405G>T	XP_016874855.1:p.Lys135Asn
XM_017019367.2:c.405G>T	XP_016874856.1:p.Lys135Asn
XR_001749352.2:n.186+26082C>A
XR_001749353.2:n.304-14999C>A
XR_001749354.2:n.186+26082C>A
XR_945459.3:n.187-14999C>A
XR_945460.3:n.299-14999C>A
NM_002562.6:c.1158G>T MANE Select	NP_002553.3:p.Lys386Asn
NR_033948.2:n.1476G>T
NR_033949.2:n.1392G>T
NR_033950.2:n.1353G>T
NR_033951.2:n.1337G>T
NR_033952.2:n.1264G>T
NR_033953.2:n.1168G>T
NR_033954.2:n.1156G>T
NR_033955.2:n.1116G>T
NR_033956.2:n.1043G>T