Canonical Allele Identifier: CA6833531

Gene: P2RX7

Linked Data

• dbSNP Id: rs201385229
• ExAC: 12:121615168 C / T
• gnomAD v2: 12-121615168-C-T
• gnomAD v3: 12-121177365-C-T
• gnomAD v4: 12-121177365-C-T
• MyVariant Identifiers: chr12:g.121615168C>T (hg19) ; chr12:g.121177365C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177365C>T , CM000674.2:g.121177365C>T	GRCh38
NC_000012.11:g.121615168C>T , CM000674.1:g.121615168C>T	GRCh37
NC_000012.10:g.120099551C>T	NCBI36
NG_011471.2:g.49491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1107C>T MANE Select	ENSP00000330696.6:p.Pro369=
ENST00000261826.10:c.*560C>T	ENSP00000261826.6:n.*560C>T
ENST00000328963.9:c.1107C>T	ENSP00000330696.6:p.Pro369=
ENST00000535250.5:c.1191C>T	ENSP00000442572.2:n.1191C>T
ENST00000535600.2:c.924C>T	ENSP00000442470.1:n.924C>T
ENST00000537312.5:c.*878C>T	ENSP00000438586.1:n.*878C>T
ENST00000538011.5:c.1246C>T	ENSP00000439247.1:n.1246C>T
ENST00000539606.5:c.1330C>T	ENSP00000445325.1:n.1330C>T
ENST00000539695.5:n.1276C>T
ENST00000541022.5:c.897C>T	ENSP00000441230.1:n.897C>T
ENST00000541564.5:c.970C>T	ENSP00000443640.1:n.970C>T
ENST00000541716.5:c.1118C>T	ENSP00000437729.1:n.1118C>T
NM_002562.5:c.1107C>T	NP_002553.3:p.Pro369=
NR_033948.1:n.1473C>T
NR_033949.1:n.1389C>T
NR_033950.1:n.1350C>T
NR_033951.1:n.1334C>T
NR_033952.1:n.1261C>T
NR_033953.1:n.1174C>T
NR_033954.1:n.1153C>T
NR_033955.1:n.1113C>T
NR_033956.1:n.1040C>T
XM_011538418.1:c.840C>T	XP_011536720.1:p.Pro280=
XM_011538419.1:c.795C>T	XP_011536721.1:p.Pro265=
XM_011538420.1:c.240C>T	XP_011536722.1:p.Pro80=
XR_945459.1:n.190-14948G>A
XR_945460.1:n.299-14948G>A
XM_011538419.3:c.795C>T	XP_011536721.1:p.Pro265=
XM_011538420.3:c.240C>T	XP_011536722.1:p.Pro80=
XM_017019364.2:c.747C>T	XP_016874853.1:p.Pro249=
XM_017019365.2:c.747C>T	XP_016874854.1:p.Pro249=
XM_017019366.2:c.354C>T	XP_016874855.1:p.Pro118=
XM_017019367.2:c.354C>T	XP_016874856.1:p.Pro118=
XR_001749352.2:n.186+26133G>A
XR_001749353.2:n.304-14948G>A
XR_001749354.2:n.186+26133G>A
XR_945459.3:n.187-14948G>A
XR_945460.3:n.299-14948G>A
NM_002562.6:c.1107C>T MANE Select	NP_002553.3:p.Pro369=
NR_033948.2:n.1425C>T
NR_033949.2:n.1341C>T
NR_033950.2:n.1302C>T
NR_033951.2:n.1286C>T
NR_033952.2:n.1213C>T
NR_033953.2:n.1117C>T
NR_033954.2:n.1105C>T
NR_033955.2:n.1065C>T
NR_033956.2:n.992C>T