Canonical Allele Identifier: CA386959249

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615144C>G (hg19) ; chr12:g.121177341C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177341C>G , CM000674.2:g.121177341C>G	GRCh38
NC_000012.11:g.121615144C>G , CM000674.1:g.121615144C>G	GRCh37
NC_000012.10:g.120099527C>G	NCBI36
NG_011471.2:g.49467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1083C>G MANE Select	ENSP00000330696.6:p.Asn361Lys
ENST00000261826.10:c.*536C>G	ENSP00000261826.6:n.*536C>G
ENST00000328963.9:c.1083C>G	ENSP00000330696.6:p.Asn361Lys
ENST00000535250.5:c.1167C>G	ENSP00000442572.2:n.1167C>G
ENST00000535600.2:c.900C>G	ENSP00000442470.1:n.900C>G
ENST00000537312.5:c.*854C>G	ENSP00000438586.1:n.*854C>G
ENST00000538011.5:c.1222C>G	ENSP00000439247.1:n.1222C>G
ENST00000539606.5:c.1306C>G	ENSP00000445325.1:n.1306C>G
ENST00000539695.5:n.1252C>G
ENST00000541022.5:c.873C>G	ENSP00000441230.1:n.873C>G
ENST00000541564.5:c.946C>G	ENSP00000443640.1:n.946C>G
ENST00000541716.5:c.1094C>G	ENSP00000437729.1:n.1094C>G
NM_002562.5:c.1083C>G	NP_002553.3:p.Asn361Lys
NR_033948.1:n.1449C>G
NR_033949.1:n.1365C>G
NR_033950.1:n.1326C>G
NR_033951.1:n.1310C>G
NR_033952.1:n.1237C>G
NR_033953.1:n.1150C>G
NR_033954.1:n.1129C>G
NR_033955.1:n.1089C>G
NR_033956.1:n.1016C>G
XM_011538418.1:c.816C>G	XP_011536720.1:p.Asn272Lys
XM_011538419.1:c.771C>G	XP_011536721.1:p.Asn257Lys
XM_011538420.1:c.216C>G	XP_011536722.1:p.Asn72Lys
XR_945459.1:n.190-14924G>C
XR_945460.1:n.299-14924G>C
XM_011538419.3:c.771C>G	XP_011536721.1:p.Asn257Lys
XM_011538420.3:c.216C>G	XP_011536722.1:p.Asn72Lys
XM_017019364.2:c.723C>G	XP_016874853.1:p.Asn241Lys
XM_017019365.2:c.723C>G	XP_016874854.1:p.Asn241Lys
XM_017019366.2:c.330C>G	XP_016874855.1:p.Asn110Lys
XM_017019367.2:c.330C>G	XP_016874856.1:p.Asn110Lys
XR_001749352.2:n.186+26157G>C
XR_001749353.2:n.304-14924G>C
XR_001749354.2:n.186+26157G>C
XR_945459.3:n.187-14924G>C
XR_945460.3:n.299-14924G>C
NM_002562.6:c.1083C>G MANE Select	NP_002553.3:p.Asn361Lys
NR_033948.2:n.1401C>G
NR_033949.2:n.1317C>G
NR_033950.2:n.1278C>G
NR_033951.2:n.1262C>G
NR_033952.2:n.1189C>G
NR_033953.2:n.1093C>G
NR_033954.2:n.1081C>G
NR_033955.2:n.1041C>G
NR_033956.2:n.968C>G