Canonical Allele Identifier: CA386959920

Gene: P2RX7

Linked Data

• dbSNP Id: rs754406571
• gnomAD v4: 12-121177403-A-G
• MyVariant Identifiers: chr12:g.121615206A>G (hg19) ; chr12:g.121177403A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177403A>G , CM000674.2:g.121177403A>G	GRCh38
NC_000012.11:g.121615206A>G , CM000674.1:g.121615206A>G	GRCh37
NC_000012.10:g.120099589A>G	NCBI36
NG_011471.2:g.49529A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1145A>G MANE Select	ENSP00000330696.6:p.Tyr382Cys
ENST00000261826.10:c.*598A>G	ENSP00000261826.6:n.*598A>G
ENST00000328963.9:c.1145A>G	ENSP00000330696.6:p.Tyr382Cys
ENST00000535250.5:c.1229A>G	ENSP00000442572.2:n.1229A>G
ENST00000535600.2:c.962A>G	ENSP00000442470.1:n.962A>G
ENST00000537312.5:c.*916A>G	ENSP00000438586.1:n.*916A>G
ENST00000538011.5:c.1284A>G	ENSP00000439247.1:n.1284A>G
ENST00000539606.5:c.1368A>G	ENSP00000445325.1:n.1368A>G
ENST00000539695.5:n.1314A>G
ENST00000541022.5:c.935A>G	ENSP00000441230.1:n.935A>G
ENST00000541564.5:c.1008A>G	ENSP00000443640.1:n.1008A>G
ENST00000541716.5:c.1156A>G	ENSP00000437729.1:n.1156A>G
NM_002562.5:c.1145A>G	NP_002553.3:p.Tyr382Cys
NR_033948.1:n.1511A>G
NR_033949.1:n.1427A>G
NR_033950.1:n.1388A>G
NR_033951.1:n.1372A>G
NR_033952.1:n.1299A>G
NR_033953.1:n.1212A>G
NR_033954.1:n.1191A>G
NR_033955.1:n.1151A>G
NR_033956.1:n.1078A>G
XM_011538418.1:c.878A>G	XP_011536720.1:p.Tyr293Cys
XM_011538419.1:c.833A>G	XP_011536721.1:p.Tyr278Cys
XM_011538420.1:c.278A>G	XP_011536722.1:p.Tyr93Cys
XR_945459.1:n.190-14986T>C
XR_945460.1:n.299-14986T>C
XM_011538419.3:c.833A>G	XP_011536721.1:p.Tyr278Cys
XM_011538420.3:c.278A>G	XP_011536722.1:p.Tyr93Cys
XM_017019364.2:c.785A>G	XP_016874853.1:p.Tyr262Cys
XM_017019365.2:c.785A>G	XP_016874854.1:p.Tyr262Cys
XM_017019366.2:c.392A>G	XP_016874855.1:p.Tyr131Cys
XM_017019367.2:c.392A>G	XP_016874856.1:p.Tyr131Cys
XR_001749352.2:n.186+26095T>C
XR_001749353.2:n.304-14986T>C
XR_001749354.2:n.186+26095T>C
XR_945459.3:n.187-14986T>C
XR_945460.3:n.299-14986T>C
NM_002562.6:c.1145A>G MANE Select	NP_002553.3:p.Tyr382Cys
NR_033948.2:n.1463A>G
NR_033949.2:n.1379A>G
NR_033950.2:n.1340A>G
NR_033951.2:n.1324A>G
NR_033952.2:n.1251A>G
NR_033953.2:n.1155A>G
NR_033954.2:n.1143A>G
NR_033955.2:n.1103A>G
NR_033956.2:n.1030A>G