Canonical Allele Identifier: CA386959362

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615155C>G (hg19) ; chr12:g.121177352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177352C>G , CM000674.2:g.121177352C>G	GRCh38
NC_000012.11:g.121615155C>G , CM000674.1:g.121615155C>G	GRCh37
NC_000012.10:g.120099538C>G	NCBI36
NG_011471.2:g.49478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1094C>G MANE Select	ENSP00000330696.6:p.Ser365Cys
ENST00000261826.10:c.*547C>G	ENSP00000261826.6:n.*547C>G
ENST00000328963.9:c.1094C>G	ENSP00000330696.6:p.Ser365Cys
ENST00000535250.5:c.1178C>G	ENSP00000442572.2:n.1178C>G
ENST00000535600.2:c.911C>G	ENSP00000442470.1:n.911C>G
ENST00000537312.5:c.*865C>G	ENSP00000438586.1:n.*865C>G
ENST00000538011.5:c.1233C>G	ENSP00000439247.1:n.1233C>G
ENST00000539606.5:c.1317C>G	ENSP00000445325.1:n.1317C>G
ENST00000539695.5:n.1263C>G
ENST00000541022.5:c.884C>G	ENSP00000441230.1:n.884C>G
ENST00000541564.5:c.957C>G	ENSP00000443640.1:n.957C>G
ENST00000541716.5:c.1105C>G	ENSP00000437729.1:n.1105C>G
NM_002562.5:c.1094C>G	NP_002553.3:p.Ser365Cys
NR_033948.1:n.1460C>G
NR_033949.1:n.1376C>G
NR_033950.1:n.1337C>G
NR_033951.1:n.1321C>G
NR_033952.1:n.1248C>G
NR_033953.1:n.1161C>G
NR_033954.1:n.1140C>G
NR_033955.1:n.1100C>G
NR_033956.1:n.1027C>G
XM_011538418.1:c.827C>G	XP_011536720.1:p.Ser276Cys
XM_011538419.1:c.782C>G	XP_011536721.1:p.Ser261Cys
XM_011538420.1:c.227C>G	XP_011536722.1:p.Ser76Cys
XR_945459.1:n.190-14935G>C
XR_945460.1:n.299-14935G>C
XM_011538419.3:c.782C>G	XP_011536721.1:p.Ser261Cys
XM_011538420.3:c.227C>G	XP_011536722.1:p.Ser76Cys
XM_017019364.2:c.734C>G	XP_016874853.1:p.Ser245Cys
XM_017019365.2:c.734C>G	XP_016874854.1:p.Ser245Cys
XM_017019366.2:c.341C>G	XP_016874855.1:p.Ser114Cys
XM_017019367.2:c.341C>G	XP_016874856.1:p.Ser114Cys
XR_001749352.2:n.186+26146G>C
XR_001749353.2:n.304-14935G>C
XR_001749354.2:n.186+26146G>C
XR_945459.3:n.187-14935G>C
XR_945460.3:n.299-14935G>C
NM_002562.6:c.1094C>G MANE Select	NP_002553.3:p.Ser365Cys
NR_033948.2:n.1412C>G
NR_033949.2:n.1328C>G
NR_033950.2:n.1289C>G
NR_033951.2:n.1273C>G
NR_033952.2:n.1200C>G
NR_033953.2:n.1104C>G
NR_033954.2:n.1092C>G
NR_033955.2:n.1052C>G
NR_033956.2:n.979C>G