Canonical Allele Identifier: CA386959657

Gene: P2RX7

Linked Data

• COSMIC: COSM3792267
• MyVariant Identifiers: chr12:g.121615184C>T (hg19) ; chr12:g.121177381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177381C>T , CM000674.2:g.121177381C>T	GRCh38
NC_000012.11:g.121615184C>T , CM000674.1:g.121615184C>T	GRCh37
NC_000012.10:g.120099567C>T	NCBI36
NG_011471.2:g.49507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1123C>T MANE Select	ENSP00000330696.6:p.Gln375Ter
ENST00000261826.10:c.*576C>T	ENSP00000261826.6:n.*576C>T
ENST00000328963.9:c.1123C>T	ENSP00000330696.6:p.Gln375Ter
ENST00000535250.5:c.1207C>T	ENSP00000442572.2:n.1207C>T
ENST00000535600.2:c.940C>T	ENSP00000442470.1:n.940C>T
ENST00000537312.5:c.*894C>T	ENSP00000438586.1:n.*894C>T
ENST00000538011.5:c.1262C>T	ENSP00000439247.1:n.1262C>T
ENST00000539606.5:c.1346C>T	ENSP00000445325.1:n.1346C>T
ENST00000539695.5:n.1292C>T
ENST00000541022.5:c.913C>T	ENSP00000441230.1:n.913C>T
ENST00000541564.5:c.986C>T	ENSP00000443640.1:n.986C>T
ENST00000541716.5:c.1134C>T	ENSP00000437729.1:n.1134C>T
NM_002562.5:c.1123C>T	NP_002553.3:p.Gln375Ter
NR_033948.1:n.1489C>T
NR_033949.1:n.1405C>T
NR_033950.1:n.1366C>T
NR_033951.1:n.1350C>T
NR_033952.1:n.1277C>T
NR_033953.1:n.1190C>T
NR_033954.1:n.1169C>T
NR_033955.1:n.1129C>T
NR_033956.1:n.1056C>T
XM_011538418.1:c.856C>T	XP_011536720.1:p.Gln286Ter
XM_011538419.1:c.811C>T	XP_011536721.1:p.Gln271Ter
XM_011538420.1:c.256C>T	XP_011536722.1:p.Gln86Ter
XR_945459.1:n.190-14964G>A
XR_945460.1:n.299-14964G>A
XM_011538419.3:c.811C>T	XP_011536721.1:p.Gln271Ter
XM_011538420.3:c.256C>T	XP_011536722.1:p.Gln86Ter
XM_017019364.2:c.763C>T	XP_016874853.1:p.Gln255Ter
XM_017019365.2:c.763C>T	XP_016874854.1:p.Gln255Ter
XM_017019366.2:c.370C>T	XP_016874855.1:p.Gln124Ter
XM_017019367.2:c.370C>T	XP_016874856.1:p.Gln124Ter
XR_001749352.2:n.186+26117G>A
XR_001749353.2:n.304-14964G>A
XR_001749354.2:n.186+26117G>A
XR_945459.3:n.187-14964G>A
XR_945460.3:n.299-14964G>A
NM_002562.6:c.1123C>T MANE Select	NP_002553.3:p.Gln375Ter
NR_033948.2:n.1441C>T
NR_033949.2:n.1357C>T
NR_033950.2:n.1318C>T
NR_033951.2:n.1302C>T
NR_033952.2:n.1229C>T
NR_033953.2:n.1133C>T
NR_033954.2:n.1121C>T
NR_033955.2:n.1081C>T
NR_033956.2:n.1008C>T