Canonical Allele Identifier: CA6833524

Gene: P2RX7

Linked Data

• dbSNP Id: rs760867242
• ExAC: 12:121615148 T / G
• gnomAD v2: 12-121615148-T-G
• gnomAD v4: 12-121177345-T-G
• MyVariant Identifiers: chr12:g.121615148T>G (hg19) ; chr12:g.121177345T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177345T>G , CM000674.2:g.121177345T>G	GRCh38
NC_000012.11:g.121615148T>G , CM000674.1:g.121615148T>G	GRCh37
NC_000012.10:g.120099531T>G	NCBI36
NG_011471.2:g.49471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1087T>G MANE Select	ENSP00000330696.6:p.Cys363Gly
ENST00000261826.10:c.*540T>G	ENSP00000261826.6:n.*540T>G
ENST00000328963.9:c.1087T>G	ENSP00000330696.6:p.Cys363Gly
ENST00000535250.5:c.1171T>G	ENSP00000442572.2:n.1171T>G
ENST00000535600.2:c.904T>G	ENSP00000442470.1:n.904T>G
ENST00000537312.5:c.*858T>G	ENSP00000438586.1:n.*858T>G
ENST00000538011.5:c.1226T>G	ENSP00000439247.1:n.1226T>G
ENST00000539606.5:c.1310T>G	ENSP00000445325.1:n.1310T>G
ENST00000539695.5:n.1256T>G
ENST00000541022.5:c.877T>G	ENSP00000441230.1:n.877T>G
ENST00000541564.5:c.950T>G	ENSP00000443640.1:n.950T>G
ENST00000541716.5:c.1098T>G	ENSP00000437729.1:n.1098T>G
NM_002562.5:c.1087T>G	NP_002553.3:p.Cys363Gly
NR_033948.1:n.1453T>G
NR_033949.1:n.1369T>G
NR_033950.1:n.1330T>G
NR_033951.1:n.1314T>G
NR_033952.1:n.1241T>G
NR_033953.1:n.1154T>G
NR_033954.1:n.1133T>G
NR_033955.1:n.1093T>G
NR_033956.1:n.1020T>G
XM_011538418.1:c.820T>G	XP_011536720.1:p.Cys274Gly
XM_011538419.1:c.775T>G	XP_011536721.1:p.Cys259Gly
XM_011538420.1:c.220T>G	XP_011536722.1:p.Cys74Gly
XR_945459.1:n.190-14928A>C
XR_945460.1:n.299-14928A>C
XM_011538419.3:c.775T>G	XP_011536721.1:p.Cys259Gly
XM_011538420.3:c.220T>G	XP_011536722.1:p.Cys74Gly
XM_017019364.2:c.727T>G	XP_016874853.1:p.Cys243Gly
XM_017019365.2:c.727T>G	XP_016874854.1:p.Cys243Gly
XM_017019366.2:c.334T>G	XP_016874855.1:p.Cys112Gly
XM_017019367.2:c.334T>G	XP_016874856.1:p.Cys112Gly
XR_001749352.2:n.186+26153A>C
XR_001749353.2:n.304-14928A>C
XR_001749354.2:n.186+26153A>C
XR_945459.3:n.187-14928A>C
XR_945460.3:n.299-14928A>C
NM_002562.6:c.1087T>G MANE Select	NP_002553.3:p.Cys363Gly
NR_033948.2:n.1405T>G
NR_033949.2:n.1321T>G
NR_033950.2:n.1282T>G
NR_033951.2:n.1266T>G
NR_033952.2:n.1193T>G
NR_033953.2:n.1097T>G
NR_033954.2:n.1085T>G
NR_033955.2:n.1045T>G
NR_033956.2:n.972T>G