Canonical Allele Identifier: CA386960113

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615227A>T (hg19) ; chr12:g.121177424A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177424A>T , CM000674.2:g.121177424A>T	GRCh38
NC_000012.11:g.121615227A>T , CM000674.1:g.121615227A>T	GRCh37
NC_000012.10:g.120099610A>T	NCBI36
NG_011471.2:g.49550A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1166A>T MANE Select	ENSP00000330696.6:p.Glu389Val
ENST00000261826.10:c.*619A>T	ENSP00000261826.6:n.*619A>T
ENST00000328963.9:c.1166A>T	ENSP00000330696.6:p.Glu389Val
ENST00000535250.5:c.1250A>T	ENSP00000442572.2:n.1250A>T
ENST00000535600.2:c.983A>T	ENSP00000442470.1:n.983A>T
ENST00000537312.5:c.*937A>T	ENSP00000438586.1:n.*937A>T
ENST00000538011.5:c.1305A>T	ENSP00000439247.1:n.1305A>T
ENST00000539606.5:c.1389A>T	ENSP00000445325.1:n.1389A>T
ENST00000539695.5:n.1335A>T
ENST00000541022.5:c.956A>T	ENSP00000441230.1:n.956A>T
ENST00000541564.5:c.1029A>T	ENSP00000443640.1:n.1029A>T
ENST00000541716.5:c.1177A>T	ENSP00000437729.1:n.1177A>T
NM_002562.5:c.1166A>T	NP_002553.3:p.Glu389Val
NR_033948.1:n.1532A>T
NR_033949.1:n.1448A>T
NR_033950.1:n.1409A>T
NR_033951.1:n.1393A>T
NR_033952.1:n.1320A>T
NR_033953.1:n.1233A>T
NR_033954.1:n.1212A>T
NR_033955.1:n.1172A>T
NR_033956.1:n.1099A>T
XM_011538418.1:c.899A>T	XP_011536720.1:p.Glu300Val
XM_011538419.1:c.854A>T	XP_011536721.1:p.Glu285Val
XM_011538420.1:c.299A>T	XP_011536722.1:p.Glu100Val
XR_945459.1:n.190-15007T>A
XR_945460.1:n.299-15007T>A
XM_011538419.3:c.854A>T	XP_011536721.1:p.Glu285Val
XM_011538420.3:c.299A>T	XP_011536722.1:p.Glu100Val
XM_017019364.2:c.806A>T	XP_016874853.1:p.Glu269Val
XM_017019365.2:c.806A>T	XP_016874854.1:p.Glu269Val
XM_017019366.2:c.413A>T	XP_016874855.1:p.Glu138Val
XM_017019367.2:c.413A>T	XP_016874856.1:p.Glu138Val
XR_001749352.2:n.186+26074T>A
XR_001749353.2:n.304-15007T>A
XR_001749354.2:n.186+26074T>A
XR_945459.3:n.187-15007T>A
XR_945460.3:n.299-15007T>A
NM_002562.6:c.1166A>T MANE Select	NP_002553.3:p.Glu389Val
NR_033948.2:n.1484A>T
NR_033949.2:n.1400A>T
NR_033950.2:n.1361A>T
NR_033951.2:n.1345A>T
NR_033952.2:n.1272A>T
NR_033953.2:n.1176A>T
NR_033954.2:n.1164A>T
NR_033955.2:n.1124A>T
NR_033956.2:n.1051A>T