Canonical Allele Identifier: CA386942093

Gene: P2RX7

Linked Data

• dbSNP Id: rs750693211
• gnomAD v2: 12-121570778-C-G
• gnomAD v4: 12-121132975-C-G
• MyVariant Identifiers: chr12:g.121570778C>G (hg19) ; chr12:g.121132975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132975C>G , CM000674.2:g.121132975C>G	GRCh38
NC_000012.11:g.121570778C>G , CM000674.1:g.121570778C>G	GRCh37
NC_000012.10:g.120055161C>G	NCBI36
NG_011471.2:g.5101C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.5C>G MANE Select	ENSP00000330696.6:p.Pro2Arg
ENST00000261826.10:c.5C>G	ENSP00000261826.6:p.Pro2Arg
ENST00000328963.9:c.5C>G	ENSP00000330696.6:p.Pro2Arg
ENST00000535250.5:c.5C>G	ENSP00000442572.2:p.Pro2Arg
ENST00000535600.2:c.5C>G	ENSP00000442470.1:p.Pro2Arg
ENST00000535928.5:c.5C>G	ENSP00000439961.1:p.Pro2Arg
ENST00000537312.5:c.5C>G	ENSP00000438586.1:p.Pro2Arg
ENST00000538011.5:c.5C>G	ENSP00000439247.1:p.Pro2Arg
ENST00000539606.5:c.5C>G	ENSP00000445325.1:p.Pro2Arg
ENST00000539695.5:n.74C>G
ENST00000541022.5:c.5C>G	ENSP00000441230.1:p.Pro2Arg
ENST00000541564.5:c.5C>G	ENSP00000443640.1:p.Pro2Arg
ENST00000541716.5:c.5C>G	ENSP00000437729.1:p.Pro2Arg
ENST00000545434.5:c.5C>G	ENSP00000445564.1:p.Pro2Arg
NM_002562.5:c.5C>G	NP_002553.3:p.Pro2Arg
NR_033948.1:n.148C>G
NR_033949.1:n.148C>G
NR_033950.1:n.148C>G
NR_033951.1:n.148C>G
NR_033952.1:n.148C>G
NR_033953.1:n.157C>G
NR_033954.1:n.148C>G
NR_033955.1:n.148C>G
NR_033956.1:n.148C>G
XM_011538418.1:c.5C>G	XP_011536720.1:p.Pro2Arg
XM_011538419.1:c.-139C>G	XP_011536721.1:n.-139C>G
XM_011538419.3:c.-139C>G	XP_011536721.1:n.-139C>G
XM_017019364.2:c.-509C>G	XP_016874853.1:n.-509C>G
XM_017019365.2:c.-340C>G	XP_016874854.1:n.-340C>G
XM_017019366.2:c.-676C>G	XP_016874855.1:n.-676C>G
XM_017019367.2:c.-507C>G	XP_016874856.1:n.-507C>G
XR_001749352.2:n.187-6134G>C
XR_001749354.2:n.187-6134G>C
NM_002562.6:c.5C>G MANE Select	NP_002553.3:p.Pro2Arg
NR_033948.2:n.100C>G
NR_033949.2:n.100C>G
NR_033950.2:n.100C>G
NR_033951.2:n.100C>G
NR_033952.2:n.100C>G
NR_033953.2:n.100C>G
NR_033954.2:n.100C>G
NR_033955.2:n.100C>G
NR_033956.2:n.100C>G