Canonical Allele Identifier: CA386959447

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615163T>A (hg19) ; chr12:g.121177360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177360T>A , CM000674.2:g.121177360T>A	GRCh38
NC_000012.11:g.121615163T>A , CM000674.1:g.121615163T>A	GRCh37
NC_000012.10:g.120099546T>A	NCBI36
NG_011471.2:g.49486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1102T>A MANE Select	ENSP00000330696.6:p.Tyr368Asn
ENST00000261826.10:c.*555T>A	ENSP00000261826.6:n.*555T>A
ENST00000328963.9:c.1102T>A	ENSP00000330696.6:p.Tyr368Asn
ENST00000535250.5:c.1186T>A	ENSP00000442572.2:n.1186T>A
ENST00000535600.2:c.919T>A	ENSP00000442470.1:n.919T>A
ENST00000537312.5:c.*873T>A	ENSP00000438586.1:n.*873T>A
ENST00000538011.5:c.1241T>A	ENSP00000439247.1:n.1241T>A
ENST00000539606.5:c.1325T>A	ENSP00000445325.1:n.1325T>A
ENST00000539695.5:n.1271T>A
ENST00000541022.5:c.892T>A	ENSP00000441230.1:n.892T>A
ENST00000541564.5:c.965T>A	ENSP00000443640.1:n.965T>A
ENST00000541716.5:c.1113T>A	ENSP00000437729.1:n.1113T>A
NM_002562.5:c.1102T>A	NP_002553.3:p.Tyr368Asn
NR_033948.1:n.1468T>A
NR_033949.1:n.1384T>A
NR_033950.1:n.1345T>A
NR_033951.1:n.1329T>A
NR_033952.1:n.1256T>A
NR_033953.1:n.1169T>A
NR_033954.1:n.1148T>A
NR_033955.1:n.1108T>A
NR_033956.1:n.1035T>A
XM_011538418.1:c.835T>A	XP_011536720.1:p.Tyr279Asn
XM_011538419.1:c.790T>A	XP_011536721.1:p.Tyr264Asn
XM_011538420.1:c.235T>A	XP_011536722.1:p.Tyr79Asn
XR_945459.1:n.190-14943A>T
XR_945460.1:n.299-14943A>T
XM_011538419.3:c.790T>A	XP_011536721.1:p.Tyr264Asn
XM_011538420.3:c.235T>A	XP_011536722.1:p.Tyr79Asn
XM_017019364.2:c.742T>A	XP_016874853.1:p.Tyr248Asn
XM_017019365.2:c.742T>A	XP_016874854.1:p.Tyr248Asn
XM_017019366.2:c.349T>A	XP_016874855.1:p.Tyr117Asn
XM_017019367.2:c.349T>A	XP_016874856.1:p.Tyr117Asn
XR_001749352.2:n.186+26138A>T
XR_001749353.2:n.304-14943A>T
XR_001749354.2:n.186+26138A>T
XR_945459.3:n.187-14943A>T
XR_945460.3:n.299-14943A>T
NM_002562.6:c.1102T>A MANE Select	NP_002553.3:p.Tyr368Asn
NR_033948.2:n.1420T>A
NR_033949.2:n.1336T>A
NR_033950.2:n.1297T>A
NR_033951.2:n.1281T>A
NR_033952.2:n.1208T>A
NR_033953.2:n.1112T>A
NR_033954.2:n.1100T>A
NR_033955.2:n.1060T>A
NR_033956.2:n.987T>A