Canonical Allele Identifier: CA386959338

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615150T>G (hg19) ; chr12:g.121177347T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177347T>G , CM000674.2:g.121177347T>G	GRCh38
NC_000012.11:g.121615150T>G , CM000674.1:g.121615150T>G	GRCh37
NC_000012.10:g.120099533T>G	NCBI36
NG_011471.2:g.49473T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1089T>G MANE Select	ENSP00000330696.6:p.Cys363Trp
ENST00000261826.10:c.*542T>G	ENSP00000261826.6:n.*542T>G
ENST00000328963.9:c.1089T>G	ENSP00000330696.6:p.Cys363Trp
ENST00000535250.5:c.1173T>G	ENSP00000442572.2:n.1173T>G
ENST00000535600.2:c.906T>G	ENSP00000442470.1:n.906T>G
ENST00000537312.5:c.*860T>G	ENSP00000438586.1:n.*860T>G
ENST00000538011.5:c.1228T>G	ENSP00000439247.1:n.1228T>G
ENST00000539606.5:c.1312T>G	ENSP00000445325.1:n.1312T>G
ENST00000539695.5:n.1258T>G
ENST00000541022.5:c.879T>G	ENSP00000441230.1:n.879T>G
ENST00000541564.5:c.952T>G	ENSP00000443640.1:n.952T>G
ENST00000541716.5:c.1100T>G	ENSP00000437729.1:n.1100T>G
NM_002562.5:c.1089T>G	NP_002553.3:p.Cys363Trp
NR_033948.1:n.1455T>G
NR_033949.1:n.1371T>G
NR_033950.1:n.1332T>G
NR_033951.1:n.1316T>G
NR_033952.1:n.1243T>G
NR_033953.1:n.1156T>G
NR_033954.1:n.1135T>G
NR_033955.1:n.1095T>G
NR_033956.1:n.1022T>G
XM_011538418.1:c.822T>G	XP_011536720.1:p.Cys274Trp
XM_011538419.1:c.777T>G	XP_011536721.1:p.Cys259Trp
XM_011538420.1:c.222T>G	XP_011536722.1:p.Cys74Trp
XR_945459.1:n.190-14930A>C
XR_945460.1:n.299-14930A>C
XM_011538419.3:c.777T>G	XP_011536721.1:p.Cys259Trp
XM_011538420.3:c.222T>G	XP_011536722.1:p.Cys74Trp
XM_017019364.2:c.729T>G	XP_016874853.1:p.Cys243Trp
XM_017019365.2:c.729T>G	XP_016874854.1:p.Cys243Trp
XM_017019366.2:c.336T>G	XP_016874855.1:p.Cys112Trp
XM_017019367.2:c.336T>G	XP_016874856.1:p.Cys112Trp
XR_001749352.2:n.186+26151A>C
XR_001749353.2:n.304-14930A>C
XR_001749354.2:n.186+26151A>C
XR_945459.3:n.187-14930A>C
XR_945460.3:n.299-14930A>C
NM_002562.6:c.1089T>G MANE Select	NP_002553.3:p.Cys363Trp
NR_033948.2:n.1407T>G
NR_033949.2:n.1323T>G
NR_033950.2:n.1284T>G
NR_033951.2:n.1268T>G
NR_033952.2:n.1195T>G
NR_033953.2:n.1099T>G
NR_033954.2:n.1087T>G
NR_033955.2:n.1047T>G
NR_033956.2:n.974T>G