Canonical Allele Identifier: CA386959712

Gene: P2RX7

Linked Data

• COSMIC: COSM4598875
• MyVariant Identifiers: chr12:g.121615186G>T (hg19) ; chr12:g.121177383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177383G>T , CM000674.2:g.121177383G>T	GRCh38
NC_000012.11:g.121615186G>T , CM000674.1:g.121615186G>T	GRCh37
NC_000012.10:g.120099569G>T	NCBI36
NG_011471.2:g.49509G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1125G>T MANE Select	ENSP00000330696.6:p.Gln375His
ENST00000261826.10:c.*578G>T	ENSP00000261826.6:n.*578G>T
ENST00000328963.9:c.1125G>T	ENSP00000330696.6:p.Gln375His
ENST00000535250.5:c.1209G>T	ENSP00000442572.2:n.1209G>T
ENST00000535600.2:c.942G>T	ENSP00000442470.1:n.942G>T
ENST00000537312.5:c.*896G>T	ENSP00000438586.1:n.*896G>T
ENST00000538011.5:c.1264G>T	ENSP00000439247.1:n.1264G>T
ENST00000539606.5:c.1348G>T	ENSP00000445325.1:n.1348G>T
ENST00000539695.5:n.1294G>T
ENST00000541022.5:c.915G>T	ENSP00000441230.1:n.915G>T
ENST00000541564.5:c.988G>T	ENSP00000443640.1:n.988G>T
ENST00000541716.5:c.1136G>T	ENSP00000437729.1:n.1136G>T
NM_002562.5:c.1125G>T	NP_002553.3:p.Gln375His
NR_033948.1:n.1491G>T
NR_033949.1:n.1407G>T
NR_033950.1:n.1368G>T
NR_033951.1:n.1352G>T
NR_033952.1:n.1279G>T
NR_033953.1:n.1192G>T
NR_033954.1:n.1171G>T
NR_033955.1:n.1131G>T
NR_033956.1:n.1058G>T
XM_011538418.1:c.858G>T	XP_011536720.1:p.Gln286His
XM_011538419.1:c.813G>T	XP_011536721.1:p.Gln271His
XM_011538420.1:c.258G>T	XP_011536722.1:p.Gln86His
XR_945459.1:n.190-14966C>A
XR_945460.1:n.299-14966C>A
XM_011538419.3:c.813G>T	XP_011536721.1:p.Gln271His
XM_011538420.3:c.258G>T	XP_011536722.1:p.Gln86His
XM_017019364.2:c.765G>T	XP_016874853.1:p.Gln255His
XM_017019365.2:c.765G>T	XP_016874854.1:p.Gln255His
XM_017019366.2:c.372G>T	XP_016874855.1:p.Gln124His
XM_017019367.2:c.372G>T	XP_016874856.1:p.Gln124His
XR_001749352.2:n.186+26115C>A
XR_001749353.2:n.304-14966C>A
XR_001749354.2:n.186+26115C>A
XR_945459.3:n.187-14966C>A
XR_945460.3:n.299-14966C>A
NM_002562.6:c.1125G>T MANE Select	NP_002553.3:p.Gln375His
NR_033948.2:n.1443G>T
NR_033949.2:n.1359G>T
NR_033950.2:n.1320G>T
NR_033951.2:n.1304G>T
NR_033952.2:n.1231G>T
NR_033953.2:n.1135G>T
NR_033954.2:n.1123G>T
NR_033955.2:n.1083G>T
NR_033956.2:n.1010G>T