Canonical Allele Identifier: CA386960000

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615216G>C (hg19) ; chr12:g.121177413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177413G>C , CM000674.2:g.121177413G>C	GRCh38
NC_000012.11:g.121615216G>C , CM000674.1:g.121615216G>C	GRCh37
NC_000012.10:g.120099599G>C	NCBI36
NG_011471.2:g.49539G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1155G>C MANE Select	ENSP00000330696.6:p.Arg385Ser
ENST00000261826.10:c.*608G>C	ENSP00000261826.6:n.*608G>C
ENST00000328963.9:c.1155G>C	ENSP00000330696.6:p.Arg385Ser
ENST00000535250.5:c.1239G>C	ENSP00000442572.2:n.1239G>C
ENST00000535600.2:c.972G>C	ENSP00000442470.1:n.972G>C
ENST00000537312.5:c.*926G>C	ENSP00000438586.1:n.*926G>C
ENST00000538011.5:c.1294G>C	ENSP00000439247.1:n.1294G>C
ENST00000539606.5:c.1378G>C	ENSP00000445325.1:n.1378G>C
ENST00000539695.5:n.1324G>C
ENST00000541022.5:c.945G>C	ENSP00000441230.1:n.945G>C
ENST00000541564.5:c.1018G>C	ENSP00000443640.1:n.1018G>C
ENST00000541716.5:c.1166G>C	ENSP00000437729.1:n.1166G>C
NM_002562.5:c.1155G>C	NP_002553.3:p.Arg385Ser
NR_033948.1:n.1521G>C
NR_033949.1:n.1437G>C
NR_033950.1:n.1398G>C
NR_033951.1:n.1382G>C
NR_033952.1:n.1309G>C
NR_033953.1:n.1222G>C
NR_033954.1:n.1201G>C
NR_033955.1:n.1161G>C
NR_033956.1:n.1088G>C
XM_011538418.1:c.888G>C	XP_011536720.1:p.Arg296Ser
XM_011538419.1:c.843G>C	XP_011536721.1:p.Arg281Ser
XM_011538420.1:c.288G>C	XP_011536722.1:p.Arg96Ser
XR_945459.1:n.190-14996C>G
XR_945460.1:n.299-14996C>G
XM_011538419.3:c.843G>C	XP_011536721.1:p.Arg281Ser
XM_011538420.3:c.288G>C	XP_011536722.1:p.Arg96Ser
XM_017019364.2:c.795G>C	XP_016874853.1:p.Arg265Ser
XM_017019365.2:c.795G>C	XP_016874854.1:p.Arg265Ser
XM_017019366.2:c.402G>C	XP_016874855.1:p.Arg134Ser
XM_017019367.2:c.402G>C	XP_016874856.1:p.Arg134Ser
XR_001749352.2:n.186+26085C>G
XR_001749353.2:n.304-14996C>G
XR_001749354.2:n.186+26085C>G
XR_945459.3:n.187-14996C>G
XR_945460.3:n.299-14996C>G
NM_002562.6:c.1155G>C MANE Select	NP_002553.3:p.Arg385Ser
NR_033948.2:n.1473G>C
NR_033949.2:n.1389G>C
NR_033950.2:n.1350G>C
NR_033951.2:n.1334G>C
NR_033952.2:n.1261G>C
NR_033953.2:n.1165G>C
NR_033954.2:n.1153G>C
NR_033955.2:n.1113G>C
NR_033956.2:n.1040G>C