Canonical Allele Identifier: CA386959628

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615180C>G (hg19) ; chr12:g.121177377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177377C>G , CM000674.2:g.121177377C>G	GRCh38
NC_000012.11:g.121615180C>G , CM000674.1:g.121615180C>G	GRCh37
NC_000012.10:g.120099563C>G	NCBI36
NG_011471.2:g.49503C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1119C>G MANE Select	ENSP00000330696.6:p.Cys373Trp
ENST00000261826.10:c.*572C>G	ENSP00000261826.6:n.*572C>G
ENST00000328963.9:c.1119C>G	ENSP00000330696.6:p.Cys373Trp
ENST00000535250.5:c.1203C>G	ENSP00000442572.2:n.1203C>G
ENST00000535600.2:c.936C>G	ENSP00000442470.1:n.936C>G
ENST00000537312.5:c.*890C>G	ENSP00000438586.1:n.*890C>G
ENST00000538011.5:c.1258C>G	ENSP00000439247.1:n.1258C>G
ENST00000539606.5:c.1342C>G	ENSP00000445325.1:n.1342C>G
ENST00000539695.5:n.1288C>G
ENST00000541022.5:c.909C>G	ENSP00000441230.1:n.909C>G
ENST00000541564.5:c.982C>G	ENSP00000443640.1:n.982C>G
ENST00000541716.5:c.1130C>G	ENSP00000437729.1:n.1130C>G
NM_002562.5:c.1119C>G	NP_002553.3:p.Cys373Trp
NR_033948.1:n.1485C>G
NR_033949.1:n.1401C>G
NR_033950.1:n.1362C>G
NR_033951.1:n.1346C>G
NR_033952.1:n.1273C>G
NR_033953.1:n.1186C>G
NR_033954.1:n.1165C>G
NR_033955.1:n.1125C>G
NR_033956.1:n.1052C>G
XM_011538418.1:c.852C>G	XP_011536720.1:p.Cys284Trp
XM_011538419.1:c.807C>G	XP_011536721.1:p.Cys269Trp
XM_011538420.1:c.252C>G	XP_011536722.1:p.Cys84Trp
XR_945459.1:n.190-14960G>C
XR_945460.1:n.299-14960G>C
XM_011538419.3:c.807C>G	XP_011536721.1:p.Cys269Trp
XM_011538420.3:c.252C>G	XP_011536722.1:p.Cys84Trp
XM_017019364.2:c.759C>G	XP_016874853.1:p.Cys253Trp
XM_017019365.2:c.759C>G	XP_016874854.1:p.Cys253Trp
XM_017019366.2:c.366C>G	XP_016874855.1:p.Cys122Trp
XM_017019367.2:c.366C>G	XP_016874856.1:p.Cys122Trp
XR_001749352.2:n.186+26121G>C
XR_001749353.2:n.304-14960G>C
XR_001749354.2:n.186+26121G>C
XR_945459.3:n.187-14960G>C
XR_945460.3:n.299-14960G>C
NM_002562.6:c.1119C>G MANE Select	NP_002553.3:p.Cys373Trp
NR_033948.2:n.1437C>G
NR_033949.2:n.1353C>G
NR_033950.2:n.1314C>G
NR_033951.2:n.1298C>G
NR_033952.2:n.1225C>G
NR_033953.2:n.1129C>G
NR_033954.2:n.1117C>G
NR_033955.2:n.1077C>G
NR_033956.2:n.1004C>G