Canonical Allele Identifier: CA386959842

Gene: P2RX7

Linked Data

• dbSNP Id: rs1883338864
• gnomAD v4: 12-121177396-A-G
• MyVariant Identifiers: chr12:g.121615199A>G (hg19) ; chr12:g.121177396A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177396A>G , CM000674.2:g.121177396A>G	GRCh38
NC_000012.11:g.121615199A>G , CM000674.1:g.121615199A>G	GRCh37
NC_000012.10:g.120099582A>G	NCBI36
NG_011471.2:g.49522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1138A>G MANE Select	ENSP00000330696.6:p.Asn380Asp
ENST00000261826.10:c.*591A>G	ENSP00000261826.6:n.*591A>G
ENST00000328963.9:c.1138A>G	ENSP00000330696.6:p.Asn380Asp
ENST00000535250.5:c.1222A>G	ENSP00000442572.2:n.1222A>G
ENST00000535600.2:c.955A>G	ENSP00000442470.1:n.955A>G
ENST00000537312.5:c.*909A>G	ENSP00000438586.1:n.*909A>G
ENST00000538011.5:c.1277A>G	ENSP00000439247.1:n.1277A>G
ENST00000539606.5:c.1361A>G	ENSP00000445325.1:n.1361A>G
ENST00000539695.5:n.1307A>G
ENST00000541022.5:c.928A>G	ENSP00000441230.1:n.928A>G
ENST00000541564.5:c.1001A>G	ENSP00000443640.1:n.1001A>G
ENST00000541716.5:c.1149A>G	ENSP00000437729.1:n.1149A>G
NM_002562.5:c.1138A>G	NP_002553.3:p.Asn380Asp
NR_033948.1:n.1504A>G
NR_033949.1:n.1420A>G
NR_033950.1:n.1381A>G
NR_033951.1:n.1365A>G
NR_033952.1:n.1292A>G
NR_033953.1:n.1205A>G
NR_033954.1:n.1184A>G
NR_033955.1:n.1144A>G
NR_033956.1:n.1071A>G
XM_011538418.1:c.871A>G	XP_011536720.1:p.Asn291Asp
XM_011538419.1:c.826A>G	XP_011536721.1:p.Asn276Asp
XM_011538420.1:c.271A>G	XP_011536722.1:p.Asn91Asp
XR_945459.1:n.190-14979T>C
XR_945460.1:n.299-14979T>C
XM_011538419.3:c.826A>G	XP_011536721.1:p.Asn276Asp
XM_011538420.3:c.271A>G	XP_011536722.1:p.Asn91Asp
XM_017019364.2:c.778A>G	XP_016874853.1:p.Asn260Asp
XM_017019365.2:c.778A>G	XP_016874854.1:p.Asn260Asp
XM_017019366.2:c.385A>G	XP_016874855.1:p.Asn129Asp
XM_017019367.2:c.385A>G	XP_016874856.1:p.Asn129Asp
XR_001749352.2:n.186+26102T>C
XR_001749353.2:n.304-14979T>C
XR_001749354.2:n.186+26102T>C
XR_945459.3:n.187-14979T>C
XR_945460.3:n.299-14979T>C
NM_002562.6:c.1138A>G MANE Select	NP_002553.3:p.Asn380Asp
NR_033948.2:n.1456A>G
NR_033949.2:n.1372A>G
NR_033950.2:n.1333A>G
NR_033951.2:n.1317A>G
NR_033952.2:n.1244A>G
NR_033953.2:n.1148A>G
NR_033954.2:n.1136A>G
NR_033955.2:n.1096A>G
NR_033956.2:n.1023A>G