Canonical Allele Identifier: CA386959514

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615169T>G (hg19) ; chr12:g.121177366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177366T>G , CM000674.2:g.121177366T>G	GRCh38
NC_000012.11:g.121615169T>G , CM000674.1:g.121615169T>G	GRCh37
NC_000012.10:g.120099552T>G	NCBI36
NG_011471.2:g.49492T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1108T>G MANE Select	ENSP00000330696.6:p.Trp370Gly
ENST00000261826.10:c.*561T>G	ENSP00000261826.6:n.*561T>G
ENST00000328963.9:c.1108T>G	ENSP00000330696.6:p.Trp370Gly
ENST00000535250.5:c.1192T>G	ENSP00000442572.2:n.1192T>G
ENST00000535600.2:c.925T>G	ENSP00000442470.1:n.925T>G
ENST00000537312.5:c.*879T>G	ENSP00000438586.1:n.*879T>G
ENST00000538011.5:c.1247T>G	ENSP00000439247.1:n.1247T>G
ENST00000539606.5:c.1331T>G	ENSP00000445325.1:n.1331T>G
ENST00000539695.5:n.1277T>G
ENST00000541022.5:c.898T>G	ENSP00000441230.1:n.898T>G
ENST00000541564.5:c.971T>G	ENSP00000443640.1:n.971T>G
ENST00000541716.5:c.1119T>G	ENSP00000437729.1:n.1119T>G
NM_002562.5:c.1108T>G	NP_002553.3:p.Trp370Gly
NR_033948.1:n.1474T>G
NR_033949.1:n.1390T>G
NR_033950.1:n.1351T>G
NR_033951.1:n.1335T>G
NR_033952.1:n.1262T>G
NR_033953.1:n.1175T>G
NR_033954.1:n.1154T>G
NR_033955.1:n.1114T>G
NR_033956.1:n.1041T>G
XM_011538418.1:c.841T>G	XP_011536720.1:p.Trp281Gly
XM_011538419.1:c.796T>G	XP_011536721.1:p.Trp266Gly
XM_011538420.1:c.241T>G	XP_011536722.1:p.Trp81Gly
XR_945459.1:n.190-14949A>C
XR_945460.1:n.299-14949A>C
XM_011538419.3:c.796T>G	XP_011536721.1:p.Trp266Gly
XM_011538420.3:c.241T>G	XP_011536722.1:p.Trp81Gly
XM_017019364.2:c.748T>G	XP_016874853.1:p.Trp250Gly
XM_017019365.2:c.748T>G	XP_016874854.1:p.Trp250Gly
XM_017019366.2:c.355T>G	XP_016874855.1:p.Trp119Gly
XM_017019367.2:c.355T>G	XP_016874856.1:p.Trp119Gly
XR_001749352.2:n.186+26132A>C
XR_001749353.2:n.304-14949A>C
XR_001749354.2:n.186+26132A>C
XR_945459.3:n.187-14949A>C
XR_945460.3:n.299-14949A>C
NM_002562.6:c.1108T>G MANE Select	NP_002553.3:p.Trp370Gly
NR_033948.2:n.1426T>G
NR_033949.2:n.1342T>G
NR_033950.2:n.1303T>G
NR_033951.2:n.1287T>G
NR_033952.2:n.1214T>G
NR_033953.2:n.1118T>G
NR_033954.2:n.1106T>G
NR_033955.2:n.1066T>G
NR_033956.2:n.993T>G