Canonical Allele Identifier: CA386959915

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615205T>C (hg19) ; chr12:g.121177402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177402T>C , CM000674.2:g.121177402T>C	GRCh38
NC_000012.11:g.121615205T>C , CM000674.1:g.121615205T>C	GRCh37
NC_000012.10:g.120099588T>C	NCBI36
NG_011471.2:g.49528T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1144T>C MANE Select	ENSP00000330696.6:p.Tyr382His
ENST00000261826.10:c.*597T>C	ENSP00000261826.6:n.*597T>C
ENST00000328963.9:c.1144T>C	ENSP00000330696.6:p.Tyr382His
ENST00000535250.5:c.1228T>C	ENSP00000442572.2:n.1228T>C
ENST00000535600.2:c.961T>C	ENSP00000442470.1:n.961T>C
ENST00000537312.5:c.*915T>C	ENSP00000438586.1:n.*915T>C
ENST00000538011.5:c.1283T>C	ENSP00000439247.1:n.1283T>C
ENST00000539606.5:c.1367T>C	ENSP00000445325.1:n.1367T>C
ENST00000539695.5:n.1313T>C
ENST00000541022.5:c.934T>C	ENSP00000441230.1:n.934T>C
ENST00000541564.5:c.1007T>C	ENSP00000443640.1:n.1007T>C
ENST00000541716.5:c.1155T>C	ENSP00000437729.1:n.1155T>C
NM_002562.5:c.1144T>C	NP_002553.3:p.Tyr382His
NR_033948.1:n.1510T>C
NR_033949.1:n.1426T>C
NR_033950.1:n.1387T>C
NR_033951.1:n.1371T>C
NR_033952.1:n.1298T>C
NR_033953.1:n.1211T>C
NR_033954.1:n.1190T>C
NR_033955.1:n.1150T>C
NR_033956.1:n.1077T>C
XM_011538418.1:c.877T>C	XP_011536720.1:p.Tyr293His
XM_011538419.1:c.832T>C	XP_011536721.1:p.Tyr278His
XM_011538420.1:c.277T>C	XP_011536722.1:p.Tyr93His
XR_945459.1:n.190-14985A>G
XR_945460.1:n.299-14985A>G
XM_011538419.3:c.832T>C	XP_011536721.1:p.Tyr278His
XM_011538420.3:c.277T>C	XP_011536722.1:p.Tyr93His
XM_017019364.2:c.784T>C	XP_016874853.1:p.Tyr262His
XM_017019365.2:c.784T>C	XP_016874854.1:p.Tyr262His
XM_017019366.2:c.391T>C	XP_016874855.1:p.Tyr131His
XM_017019367.2:c.391T>C	XP_016874856.1:p.Tyr131His
XR_001749352.2:n.186+26096A>G
XR_001749353.2:n.304-14985A>G
XR_001749354.2:n.186+26096A>G
XR_945459.3:n.187-14985A>G
XR_945460.3:n.299-14985A>G
NM_002562.6:c.1144T>C MANE Select	NP_002553.3:p.Tyr382His
NR_033948.2:n.1462T>C
NR_033949.2:n.1378T>C
NR_033950.2:n.1339T>C
NR_033951.2:n.1323T>C
NR_033952.2:n.1250T>C
NR_033953.2:n.1154T>C
NR_033954.2:n.1142T>C
NR_033955.2:n.1102T>C
NR_033956.2:n.1029T>C