Canonical Allele Identifier: CA6833041

Gene: P2RX7

Linked Data

• dbSNP Id: rs765891859
• ExAC: 12:121570752 C / T
• gnomAD v2: 12-121570752-C-T
• gnomAD v4: 12-121132949-C-T
• MyVariant Identifiers: chr12:g.121570752C>T (hg19) ; chr12:g.121132949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132949C>T , CM000674.2:g.121132949C>T	GRCh38
NC_000012.11:g.121570752C>T , CM000674.1:g.121570752C>T	GRCh37
NC_000012.10:g.120055135C>T	NCBI36
NG_011471.2:g.5075C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-22C>T MANE Select	ENSP00000330696.6:n.-22C>T
ENST00000261826.10:c.-22C>T	ENSP00000261826.6:n.-22C>T
ENST00000328963.9:c.-22C>T	ENSP00000330696.6:n.-22C>T
ENST00000535928.5:c.-22C>T	ENSP00000439961.1:n.-22C>T
ENST00000537312.5:c.-22C>T	ENSP00000438586.1:n.-22C>T
ENST00000539695.5:n.48C>T
ENST00000545434.5:c.-22C>T	ENSP00000445564.1:n.-22C>T
NM_002562.5:c.-22C>T	NP_002553.3:n.-22C>T
NR_033948.1:n.122C>T
NR_033949.1:n.122C>T
NR_033950.1:n.122C>T
NR_033951.1:n.122C>T
NR_033952.1:n.122C>T
NR_033953.1:n.131C>T
NR_033954.1:n.122C>T
NR_033955.1:n.122C>T
NR_033956.1:n.122C>T
XM_011538418.1:c.-22C>T	XP_011536720.1:n.-22C>T
XM_011538419.1:c.-165C>T	XP_011536721.1:n.-165C>T
XM_011538419.3:c.-165C>T	XP_011536721.1:n.-165C>T
XM_017019364.2:c.-535C>T	XP_016874853.1:n.-535C>T
XM_017019365.2:c.-366C>T	XP_016874854.1:n.-366C>T
XM_017019366.2:c.-702C>T	XP_016874855.1:n.-702C>T
XM_017019367.2:c.-533C>T	XP_016874856.1:n.-533C>T
XR_001749352.2:n.187-6108G>A
XR_001749354.2:n.187-6108G>A
NM_002562.6:c.-22C>T MANE Select	NP_002553.3:n.-22C>T
NR_033948.2:n.74C>T
NR_033949.2:n.74C>T
NR_033950.2:n.74C>T
NR_033951.2:n.74C>T
NR_033952.2:n.74C>T
NR_033953.2:n.74C>T
NR_033954.2:n.74C>T
NR_033955.2:n.74C>T
NR_033956.2:n.74C>T