Canonical Allele Identifier: CA386959451

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615163T>C (hg19) ; chr12:g.121177360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177360T>C , CM000674.2:g.121177360T>C	GRCh38
NC_000012.11:g.121615163T>C , CM000674.1:g.121615163T>C	GRCh37
NC_000012.10:g.120099546T>C	NCBI36
NG_011471.2:g.49486T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1102T>C MANE Select	ENSP00000330696.6:p.Tyr368His
ENST00000261826.10:c.*555T>C	ENSP00000261826.6:n.*555T>C
ENST00000328963.9:c.1102T>C	ENSP00000330696.6:p.Tyr368His
ENST00000535250.5:c.1186T>C	ENSP00000442572.2:n.1186T>C
ENST00000535600.2:c.919T>C	ENSP00000442470.1:n.919T>C
ENST00000537312.5:c.*873T>C	ENSP00000438586.1:n.*873T>C
ENST00000538011.5:c.1241T>C	ENSP00000439247.1:n.1241T>C
ENST00000539606.5:c.1325T>C	ENSP00000445325.1:n.1325T>C
ENST00000539695.5:n.1271T>C
ENST00000541022.5:c.892T>C	ENSP00000441230.1:n.892T>C
ENST00000541564.5:c.965T>C	ENSP00000443640.1:n.965T>C
ENST00000541716.5:c.1113T>C	ENSP00000437729.1:n.1113T>C
NM_002562.5:c.1102T>C	NP_002553.3:p.Tyr368His
NR_033948.1:n.1468T>C
NR_033949.1:n.1384T>C
NR_033950.1:n.1345T>C
NR_033951.1:n.1329T>C
NR_033952.1:n.1256T>C
NR_033953.1:n.1169T>C
NR_033954.1:n.1148T>C
NR_033955.1:n.1108T>C
NR_033956.1:n.1035T>C
XM_011538418.1:c.835T>C	XP_011536720.1:p.Tyr279His
XM_011538419.1:c.790T>C	XP_011536721.1:p.Tyr264His
XM_011538420.1:c.235T>C	XP_011536722.1:p.Tyr79His
XR_945459.1:n.190-14943A>G
XR_945460.1:n.299-14943A>G
XM_011538419.3:c.790T>C	XP_011536721.1:p.Tyr264His
XM_011538420.3:c.235T>C	XP_011536722.1:p.Tyr79His
XM_017019364.2:c.742T>C	XP_016874853.1:p.Tyr248His
XM_017019365.2:c.742T>C	XP_016874854.1:p.Tyr248His
XM_017019366.2:c.349T>C	XP_016874855.1:p.Tyr117His
XM_017019367.2:c.349T>C	XP_016874856.1:p.Tyr117His
XR_001749352.2:n.186+26138A>G
XR_001749353.2:n.304-14943A>G
XR_001749354.2:n.186+26138A>G
XR_945459.3:n.187-14943A>G
XR_945460.3:n.299-14943A>G
NM_002562.6:c.1102T>C MANE Select	NP_002553.3:p.Tyr368His
NR_033948.2:n.1420T>C
NR_033949.2:n.1336T>C
NR_033950.2:n.1297T>C
NR_033951.2:n.1281T>C
NR_033952.2:n.1208T>C
NR_033953.2:n.1112T>C
NR_033954.2:n.1100T>C
NR_033955.2:n.1060T>C
NR_033956.2:n.987T>C