Canonical Allele Identifier: CA386959886

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177401-A-C
• MyVariant Identifiers: chr12:g.121615204A>C (hg19) ; chr12:g.121177401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177401A>C , CM000674.2:g.121177401A>C	GRCh38
NC_000012.11:g.121615204A>C , CM000674.1:g.121615204A>C	GRCh37
NC_000012.10:g.120099587A>C	NCBI36
NG_011471.2:g.49527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1143A>C MANE Select	ENSP00000330696.6:p.Glu381Asp
ENST00000261826.10:c.*596A>C	ENSP00000261826.6:n.*596A>C
ENST00000328963.9:c.1143A>C	ENSP00000330696.6:p.Glu381Asp
ENST00000535250.5:c.1227A>C	ENSP00000442572.2:n.1227A>C
ENST00000535600.2:c.960A>C	ENSP00000442470.1:n.960A>C
ENST00000537312.5:c.*914A>C	ENSP00000438586.1:n.*914A>C
ENST00000538011.5:c.1282A>C	ENSP00000439247.1:n.1282A>C
ENST00000539606.5:c.1366A>C	ENSP00000445325.1:n.1366A>C
ENST00000539695.5:n.1312A>C
ENST00000541022.5:c.933A>C	ENSP00000441230.1:n.933A>C
ENST00000541564.5:c.1006A>C	ENSP00000443640.1:n.1006A>C
ENST00000541716.5:c.1154A>C	ENSP00000437729.1:n.1154A>C
NM_002562.5:c.1143A>C	NP_002553.3:p.Glu381Asp
NR_033948.1:n.1509A>C
NR_033949.1:n.1425A>C
NR_033950.1:n.1386A>C
NR_033951.1:n.1370A>C
NR_033952.1:n.1297A>C
NR_033953.1:n.1210A>C
NR_033954.1:n.1189A>C
NR_033955.1:n.1149A>C
NR_033956.1:n.1076A>C
XM_011538418.1:c.876A>C	XP_011536720.1:p.Glu292Asp
XM_011538419.1:c.831A>C	XP_011536721.1:p.Glu277Asp
XM_011538420.1:c.276A>C	XP_011536722.1:p.Glu92Asp
XR_945459.1:n.190-14984T>G
XR_945460.1:n.299-14984T>G
XM_011538419.3:c.831A>C	XP_011536721.1:p.Glu277Asp
XM_011538420.3:c.276A>C	XP_011536722.1:p.Glu92Asp
XM_017019364.2:c.783A>C	XP_016874853.1:p.Glu261Asp
XM_017019365.2:c.783A>C	XP_016874854.1:p.Glu261Asp
XM_017019366.2:c.390A>C	XP_016874855.1:p.Glu130Asp
XM_017019367.2:c.390A>C	XP_016874856.1:p.Glu130Asp
XR_001749352.2:n.186+26097T>G
XR_001749353.2:n.304-14984T>G
XR_001749354.2:n.186+26097T>G
XR_945459.3:n.187-14984T>G
XR_945460.3:n.299-14984T>G
NM_002562.6:c.1143A>C MANE Select	NP_002553.3:p.Glu381Asp
NR_033948.2:n.1461A>C
NR_033949.2:n.1377A>C
NR_033950.2:n.1338A>C
NR_033951.2:n.1322A>C
NR_033952.2:n.1249A>C
NR_033953.2:n.1153A>C
NR_033954.2:n.1141A>C
NR_033955.2:n.1101A>C
NR_033956.2:n.1028A>C