Canonical Allele Identifier: CA386959290

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615147C>G (hg19) ; chr12:g.121177344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177344C>G , CM000674.2:g.121177344C>G	GRCh38
NC_000012.11:g.121615147C>G , CM000674.1:g.121615147C>G	GRCh37
NC_000012.10:g.120099530C>G	NCBI36
NG_011471.2:g.49470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1086C>G MANE Select	ENSP00000330696.6:p.Cys362Trp
ENST00000261826.10:c.*539C>G	ENSP00000261826.6:n.*539C>G
ENST00000328963.9:c.1086C>G	ENSP00000330696.6:p.Cys362Trp
ENST00000535250.5:c.1170C>G	ENSP00000442572.2:n.1170C>G
ENST00000535600.2:c.903C>G	ENSP00000442470.1:n.903C>G
ENST00000537312.5:c.*857C>G	ENSP00000438586.1:n.*857C>G
ENST00000538011.5:c.1225C>G	ENSP00000439247.1:n.1225C>G
ENST00000539606.5:c.1309C>G	ENSP00000445325.1:n.1309C>G
ENST00000539695.5:n.1255C>G
ENST00000541022.5:c.876C>G	ENSP00000441230.1:n.876C>G
ENST00000541564.5:c.949C>G	ENSP00000443640.1:n.949C>G
ENST00000541716.5:c.1097C>G	ENSP00000437729.1:n.1097C>G
NM_002562.5:c.1086C>G	NP_002553.3:p.Cys362Trp
NR_033948.1:n.1452C>G
NR_033949.1:n.1368C>G
NR_033950.1:n.1329C>G
NR_033951.1:n.1313C>G
NR_033952.1:n.1240C>G
NR_033953.1:n.1153C>G
NR_033954.1:n.1132C>G
NR_033955.1:n.1092C>G
NR_033956.1:n.1019C>G
XM_011538418.1:c.819C>G	XP_011536720.1:p.Cys273Trp
XM_011538419.1:c.774C>G	XP_011536721.1:p.Cys258Trp
XM_011538420.1:c.219C>G	XP_011536722.1:p.Cys73Trp
XR_945459.1:n.190-14927G>C
XR_945460.1:n.299-14927G>C
XM_011538419.3:c.774C>G	XP_011536721.1:p.Cys258Trp
XM_011538420.3:c.219C>G	XP_011536722.1:p.Cys73Trp
XM_017019364.2:c.726C>G	XP_016874853.1:p.Cys242Trp
XM_017019365.2:c.726C>G	XP_016874854.1:p.Cys242Trp
XM_017019366.2:c.333C>G	XP_016874855.1:p.Cys111Trp
XM_017019367.2:c.333C>G	XP_016874856.1:p.Cys111Trp
XR_001749352.2:n.186+26154G>C
XR_001749353.2:n.304-14927G>C
XR_001749354.2:n.186+26154G>C
XR_945459.3:n.187-14927G>C
XR_945460.3:n.299-14927G>C
NM_002562.6:c.1086C>G MANE Select	NP_002553.3:p.Cys362Trp
NR_033948.2:n.1404C>G
NR_033949.2:n.1320C>G
NR_033950.2:n.1281C>G
NR_033951.2:n.1265C>G
NR_033952.2:n.1192C>G
NR_033953.2:n.1096C>G
NR_033954.2:n.1084C>G
NR_033955.2:n.1044C>G
NR_033956.2:n.971C>G