Canonical Allele Identifier: CA386959382

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177355-A-C
• MyVariant Identifiers: chr12:g.121615158A>C (hg19) ; chr12:g.121177355A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177355A>C , CM000674.2:g.121177355A>C	GRCh38
NC_000012.11:g.121615158A>C , CM000674.1:g.121615158A>C	GRCh37
NC_000012.10:g.120099541A>C	NCBI36
NG_011471.2:g.49481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1097A>C MANE Select	ENSP00000330696.6:p.His366Pro
ENST00000261826.10:c.*550A>C	ENSP00000261826.6:n.*550A>C
ENST00000328963.9:c.1097A>C	ENSP00000330696.6:p.His366Pro
ENST00000535250.5:c.1181A>C	ENSP00000442572.2:n.1181A>C
ENST00000535600.2:c.914A>C	ENSP00000442470.1:n.914A>C
ENST00000537312.5:c.*868A>C	ENSP00000438586.1:n.*868A>C
ENST00000538011.5:c.1236A>C	ENSP00000439247.1:n.1236A>C
ENST00000539606.5:c.1320A>C	ENSP00000445325.1:n.1320A>C
ENST00000539695.5:n.1266A>C
ENST00000541022.5:c.887A>C	ENSP00000441230.1:n.887A>C
ENST00000541564.5:c.960A>C	ENSP00000443640.1:n.960A>C
ENST00000541716.5:c.1108A>C	ENSP00000437729.1:n.1108A>C
NM_002562.5:c.1097A>C	NP_002553.3:p.His366Pro
NR_033948.1:n.1463A>C
NR_033949.1:n.1379A>C
NR_033950.1:n.1340A>C
NR_033951.1:n.1324A>C
NR_033952.1:n.1251A>C
NR_033953.1:n.1164A>C
NR_033954.1:n.1143A>C
NR_033955.1:n.1103A>C
NR_033956.1:n.1030A>C
XM_011538418.1:c.830A>C	XP_011536720.1:p.His277Pro
XM_011538419.1:c.785A>C	XP_011536721.1:p.His262Pro
XM_011538420.1:c.230A>C	XP_011536722.1:p.His77Pro
XR_945459.1:n.190-14938T>G
XR_945460.1:n.299-14938T>G
XM_011538419.3:c.785A>C	XP_011536721.1:p.His262Pro
XM_011538420.3:c.230A>C	XP_011536722.1:p.His77Pro
XM_017019364.2:c.737A>C	XP_016874853.1:p.His246Pro
XM_017019365.2:c.737A>C	XP_016874854.1:p.His246Pro
XM_017019366.2:c.344A>C	XP_016874855.1:p.His115Pro
XM_017019367.2:c.344A>C	XP_016874856.1:p.His115Pro
XR_001749352.2:n.186+26143T>G
XR_001749353.2:n.304-14938T>G
XR_001749354.2:n.186+26143T>G
XR_945459.3:n.187-14938T>G
XR_945460.3:n.299-14938T>G
NM_002562.6:c.1097A>C MANE Select	NP_002553.3:p.His366Pro
NR_033948.2:n.1415A>C
NR_033949.2:n.1331A>C
NR_033950.2:n.1292A>C
NR_033951.2:n.1276A>C
NR_033952.2:n.1203A>C
NR_033953.2:n.1107A>C
NR_033954.2:n.1095A>C
NR_033955.2:n.1055A>C
NR_033956.2:n.982A>C