Canonical Allele Identifier: CA386959925

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177406-A-C
• MyVariant Identifiers: chr12:g.121615209A>C (hg19) ; chr12:g.121177406A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177406A>C , CM000674.2:g.121177406A>C	GRCh38
NC_000012.11:g.121615209A>C , CM000674.1:g.121615209A>C	GRCh37
NC_000012.10:g.120099592A>C	NCBI36
NG_011471.2:g.49532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1148A>C MANE Select	ENSP00000330696.6:p.Tyr383Ser
ENST00000261826.10:c.*601A>C	ENSP00000261826.6:n.*601A>C
ENST00000328963.9:c.1148A>C	ENSP00000330696.6:p.Tyr383Ser
ENST00000535250.5:c.1232A>C	ENSP00000442572.2:n.1232A>C
ENST00000535600.2:c.965A>C	ENSP00000442470.1:n.965A>C
ENST00000537312.5:c.*919A>C	ENSP00000438586.1:n.*919A>C
ENST00000538011.5:c.1287A>C	ENSP00000439247.1:n.1287A>C
ENST00000539606.5:c.1371A>C	ENSP00000445325.1:n.1371A>C
ENST00000539695.5:n.1317A>C
ENST00000541022.5:c.938A>C	ENSP00000441230.1:n.938A>C
ENST00000541564.5:c.1011A>C	ENSP00000443640.1:n.1011A>C
ENST00000541716.5:c.1159A>C	ENSP00000437729.1:n.1159A>C
NM_002562.5:c.1148A>C	NP_002553.3:p.Tyr383Ser
NR_033948.1:n.1514A>C
NR_033949.1:n.1430A>C
NR_033950.1:n.1391A>C
NR_033951.1:n.1375A>C
NR_033952.1:n.1302A>C
NR_033953.1:n.1215A>C
NR_033954.1:n.1194A>C
NR_033955.1:n.1154A>C
NR_033956.1:n.1081A>C
XM_011538418.1:c.881A>C	XP_011536720.1:p.Tyr294Ser
XM_011538419.1:c.836A>C	XP_011536721.1:p.Tyr279Ser
XM_011538420.1:c.281A>C	XP_011536722.1:p.Tyr94Ser
XR_945459.1:n.190-14989T>G
XR_945460.1:n.299-14989T>G
XM_011538419.3:c.836A>C	XP_011536721.1:p.Tyr279Ser
XM_011538420.3:c.281A>C	XP_011536722.1:p.Tyr94Ser
XM_017019364.2:c.788A>C	XP_016874853.1:p.Tyr263Ser
XM_017019365.2:c.788A>C	XP_016874854.1:p.Tyr263Ser
XM_017019366.2:c.395A>C	XP_016874855.1:p.Tyr132Ser
XM_017019367.2:c.395A>C	XP_016874856.1:p.Tyr132Ser
XR_001749352.2:n.186+26092T>G
XR_001749353.2:n.304-14989T>G
XR_001749354.2:n.186+26092T>G
XR_945459.3:n.187-14989T>G
XR_945460.3:n.299-14989T>G
NM_002562.6:c.1148A>C MANE Select	NP_002553.3:p.Tyr383Ser
NR_033948.2:n.1466A>C
NR_033949.2:n.1382A>C
NR_033950.2:n.1343A>C
NR_033951.2:n.1327A>C
NR_033952.2:n.1254A>C
NR_033953.2:n.1158A>C
NR_033954.2:n.1146A>C
NR_033955.2:n.1106A>C
NR_033956.2:n.1033A>C