Canonical Allele Identifier: CA386959269

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615145T>C (hg19) ; chr12:g.121177342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177342T>C , CM000674.2:g.121177342T>C	GRCh38
NC_000012.11:g.121615145T>C , CM000674.1:g.121615145T>C	GRCh37
NC_000012.10:g.120099528T>C	NCBI36
NG_011471.2:g.49468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1084T>C MANE Select	ENSP00000330696.6:p.Cys362Arg
ENST00000261826.10:c.*537T>C	ENSP00000261826.6:n.*537T>C
ENST00000328963.9:c.1084T>C	ENSP00000330696.6:p.Cys362Arg
ENST00000535250.5:c.1168T>C	ENSP00000442572.2:n.1168T>C
ENST00000535600.2:c.901T>C	ENSP00000442470.1:n.901T>C
ENST00000537312.5:c.*855T>C	ENSP00000438586.1:n.*855T>C
ENST00000538011.5:c.1223T>C	ENSP00000439247.1:n.1223T>C
ENST00000539606.5:c.1307T>C	ENSP00000445325.1:n.1307T>C
ENST00000539695.5:n.1253T>C
ENST00000541022.5:c.874T>C	ENSP00000441230.1:n.874T>C
ENST00000541564.5:c.947T>C	ENSP00000443640.1:n.947T>C
ENST00000541716.5:c.1095T>C	ENSP00000437729.1:n.1095T>C
NM_002562.5:c.1084T>C	NP_002553.3:p.Cys362Arg
NR_033948.1:n.1450T>C
NR_033949.1:n.1366T>C
NR_033950.1:n.1327T>C
NR_033951.1:n.1311T>C
NR_033952.1:n.1238T>C
NR_033953.1:n.1151T>C
NR_033954.1:n.1130T>C
NR_033955.1:n.1090T>C
NR_033956.1:n.1017T>C
XM_011538418.1:c.817T>C	XP_011536720.1:p.Cys273Arg
XM_011538419.1:c.772T>C	XP_011536721.1:p.Cys258Arg
XM_011538420.1:c.217T>C	XP_011536722.1:p.Cys73Arg
XR_945459.1:n.190-14925A>G
XR_945460.1:n.299-14925A>G
XM_011538419.3:c.772T>C	XP_011536721.1:p.Cys258Arg
XM_011538420.3:c.217T>C	XP_011536722.1:p.Cys73Arg
XM_017019364.2:c.724T>C	XP_016874853.1:p.Cys242Arg
XM_017019365.2:c.724T>C	XP_016874854.1:p.Cys242Arg
XM_017019366.2:c.331T>C	XP_016874855.1:p.Cys111Arg
XM_017019367.2:c.331T>C	XP_016874856.1:p.Cys111Arg
XR_001749352.2:n.186+26156A>G
XR_001749353.2:n.304-14925A>G
XR_001749354.2:n.186+26156A>G
XR_945459.3:n.187-14925A>G
XR_945460.3:n.299-14925A>G
NM_002562.6:c.1084T>C MANE Select	NP_002553.3:p.Cys362Arg
NR_033948.2:n.1402T>C
NR_033949.2:n.1318T>C
NR_033950.2:n.1279T>C
NR_033951.2:n.1263T>C
NR_033952.2:n.1190T>C
NR_033953.2:n.1094T>C
NR_033954.2:n.1082T>C
NR_033955.2:n.1042T>C
NR_033956.2:n.969T>C