Canonical Allele Identifier: CA386960054

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615223T>A (hg19) ; chr12:g.121177420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177420T>A , CM000674.2:g.121177420T>A	GRCh38
NC_000012.11:g.121615223T>A , CM000674.1:g.121615223T>A	GRCh37
NC_000012.10:g.120099606T>A	NCBI36
NG_011471.2:g.49546T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1162T>A MANE Select	ENSP00000330696.6:p.Cys388Ser
ENST00000261826.10:c.*615T>A	ENSP00000261826.6:n.*615T>A
ENST00000328963.9:c.1162T>A	ENSP00000330696.6:p.Cys388Ser
ENST00000535250.5:c.1246T>A	ENSP00000442572.2:n.1246T>A
ENST00000535600.2:c.979T>A	ENSP00000442470.1:n.979T>A
ENST00000537312.5:c.*933T>A	ENSP00000438586.1:n.*933T>A
ENST00000538011.5:c.1301T>A	ENSP00000439247.1:n.1301T>A
ENST00000539606.5:c.1385T>A	ENSP00000445325.1:n.1385T>A
ENST00000539695.5:n.1331T>A
ENST00000541022.5:c.952T>A	ENSP00000441230.1:n.952T>A
ENST00000541564.5:c.1025T>A	ENSP00000443640.1:n.1025T>A
ENST00000541716.5:c.1173T>A	ENSP00000437729.1:n.1173T>A
NM_002562.5:c.1162T>A	NP_002553.3:p.Cys388Ser
NR_033948.1:n.1528T>A
NR_033949.1:n.1444T>A
NR_033950.1:n.1405T>A
NR_033951.1:n.1389T>A
NR_033952.1:n.1316T>A
NR_033953.1:n.1229T>A
NR_033954.1:n.1208T>A
NR_033955.1:n.1168T>A
NR_033956.1:n.1095T>A
XM_011538418.1:c.895T>A	XP_011536720.1:p.Cys299Ser
XM_011538419.1:c.850T>A	XP_011536721.1:p.Cys284Ser
XM_011538420.1:c.295T>A	XP_011536722.1:p.Cys99Ser
XR_945459.1:n.190-15003A>T
XR_945460.1:n.299-15003A>T
XM_011538419.3:c.850T>A	XP_011536721.1:p.Cys284Ser
XM_011538420.3:c.295T>A	XP_011536722.1:p.Cys99Ser
XM_017019364.2:c.802T>A	XP_016874853.1:p.Cys268Ser
XM_017019365.2:c.802T>A	XP_016874854.1:p.Cys268Ser
XM_017019366.2:c.409T>A	XP_016874855.1:p.Cys137Ser
XM_017019367.2:c.409T>A	XP_016874856.1:p.Cys137Ser
XR_001749352.2:n.186+26078A>T
XR_001749353.2:n.304-15003A>T
XR_001749354.2:n.186+26078A>T
XR_945459.3:n.187-15003A>T
XR_945460.3:n.299-15003A>T
NM_002562.6:c.1162T>A MANE Select	NP_002553.3:p.Cys388Ser
NR_033948.2:n.1480T>A
NR_033949.2:n.1396T>A
NR_033950.2:n.1357T>A
NR_033951.2:n.1341T>A
NR_033952.2:n.1268T>A
NR_033953.2:n.1172T>A
NR_033954.2:n.1160T>A
NR_033955.2:n.1120T>A
NR_033956.2:n.1047T>A