Canonical Allele Identifier: CA482159177

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177407-C-T
• MyVariant Identifiers: chr12:g.121615210C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177407C>T , CM000674.2:g.121177407C>T	GRCh38
NC_000012.11:g.121615210C>T , CM000674.1:g.121615210C>T	GRCh37
NC_000012.10:g.120099593C>T	NCBI36
NG_011471.2:g.49533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1149C>T MANE Select	ENSP00000330696.6:p.Tyr383=
ENST00000261826.10:c.*602C>T	ENSP00000261826.6:n.*602C>T
ENST00000328963.9:c.1149C>T	ENSP00000330696.6:p.Tyr383=
ENST00000535250.5:c.1233C>T	ENSP00000442572.2:n.1233C>T
ENST00000535600.2:c.966C>T	ENSP00000442470.1:n.966C>T
ENST00000537312.5:c.*920C>T	ENSP00000438586.1:n.*920C>T
ENST00000538011.5:c.1288C>T	ENSP00000439247.1:n.1288C>T
ENST00000539606.5:c.1372C>T	ENSP00000445325.1:n.1372C>T
ENST00000539695.5:n.1318C>T
ENST00000541022.5:c.939C>T	ENSP00000441230.1:n.939C>T
ENST00000541564.5:c.1012C>T	ENSP00000443640.1:n.1012C>T
ENST00000541716.5:c.1160C>T	ENSP00000437729.1:n.1160C>T
NM_002562.5:c.1149C>T	NP_002553.3:p.Tyr383=
NR_033948.1:n.1515C>T
NR_033949.1:n.1431C>T
NR_033950.1:n.1392C>T
NR_033951.1:n.1376C>T
NR_033952.1:n.1303C>T
NR_033953.1:n.1216C>T
NR_033954.1:n.1195C>T
NR_033955.1:n.1155C>T
NR_033956.1:n.1082C>T
XM_011538418.1:c.882C>T	XP_011536720.1:p.Tyr294=
XM_011538419.1:c.837C>T	XP_011536721.1:p.Tyr279=
XM_011538420.1:c.282C>T	XP_011536722.1:p.Tyr94=
XR_945459.1:n.190-14990G>A
XR_945460.1:n.299-14990G>A
XM_011538419.3:c.837C>T	XP_011536721.1:p.Tyr279=
XM_011538420.3:c.282C>T	XP_011536722.1:p.Tyr94=
XM_017019364.2:c.789C>T	XP_016874853.1:p.Tyr263=
XM_017019365.2:c.789C>T	XP_016874854.1:p.Tyr263=
XM_017019366.2:c.396C>T	XP_016874855.1:p.Tyr132=
XM_017019367.2:c.396C>T	XP_016874856.1:p.Tyr132=
XR_001749352.2:n.186+26091G>A
XR_001749353.2:n.304-14990G>A
XR_001749354.2:n.186+26091G>A
XR_945459.3:n.187-14990G>A
XR_945460.3:n.299-14990G>A
NM_002562.6:c.1149C>T MANE Select	NP_002553.3:p.Tyr383=
NR_033948.2:n.1467C>T
NR_033949.2:n.1383C>T
NR_033950.2:n.1344C>T
NR_033951.2:n.1328C>T
NR_033952.2:n.1255C>T
NR_033953.2:n.1159C>T
NR_033954.2:n.1147C>T
NR_033955.2:n.1107C>T
NR_033956.2:n.1034C>T