Canonical Allele Identifier: CA386959277

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615146G>C (hg19) ; chr12:g.121177343G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177343G>C , CM000674.2:g.121177343G>C	GRCh38
NC_000012.11:g.121615146G>C , CM000674.1:g.121615146G>C	GRCh37
NC_000012.10:g.120099529G>C	NCBI36
NG_011471.2:g.49469G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1085G>C MANE Select	ENSP00000330696.6:p.Cys362Ser
ENST00000261826.10:c.*538G>C	ENSP00000261826.6:n.*538G>C
ENST00000328963.9:c.1085G>C	ENSP00000330696.6:p.Cys362Ser
ENST00000535250.5:c.1169G>C	ENSP00000442572.2:n.1169G>C
ENST00000535600.2:c.902G>C	ENSP00000442470.1:n.902G>C
ENST00000537312.5:c.*856G>C	ENSP00000438586.1:n.*856G>C
ENST00000538011.5:c.1224G>C	ENSP00000439247.1:n.1224G>C
ENST00000539606.5:c.1308G>C	ENSP00000445325.1:n.1308G>C
ENST00000539695.5:n.1254G>C
ENST00000541022.5:c.875G>C	ENSP00000441230.1:n.875G>C
ENST00000541564.5:c.948G>C	ENSP00000443640.1:n.948G>C
ENST00000541716.5:c.1096G>C	ENSP00000437729.1:n.1096G>C
NM_002562.5:c.1085G>C	NP_002553.3:p.Cys362Ser
NR_033948.1:n.1451G>C
NR_033949.1:n.1367G>C
NR_033950.1:n.1328G>C
NR_033951.1:n.1312G>C
NR_033952.1:n.1239G>C
NR_033953.1:n.1152G>C
NR_033954.1:n.1131G>C
NR_033955.1:n.1091G>C
NR_033956.1:n.1018G>C
XM_011538418.1:c.818G>C	XP_011536720.1:p.Cys273Ser
XM_011538419.1:c.773G>C	XP_011536721.1:p.Cys258Ser
XM_011538420.1:c.218G>C	XP_011536722.1:p.Cys73Ser
XR_945459.1:n.190-14926C>G
XR_945460.1:n.299-14926C>G
XM_011538419.3:c.773G>C	XP_011536721.1:p.Cys258Ser
XM_011538420.3:c.218G>C	XP_011536722.1:p.Cys73Ser
XM_017019364.2:c.725G>C	XP_016874853.1:p.Cys242Ser
XM_017019365.2:c.725G>C	XP_016874854.1:p.Cys242Ser
XM_017019366.2:c.332G>C	XP_016874855.1:p.Cys111Ser
XM_017019367.2:c.332G>C	XP_016874856.1:p.Cys111Ser
XR_001749352.2:n.186+26155C>G
XR_001749353.2:n.304-14926C>G
XR_001749354.2:n.186+26155C>G
XR_945459.3:n.187-14926C>G
XR_945460.3:n.299-14926C>G
NM_002562.6:c.1085G>C MANE Select	NP_002553.3:p.Cys362Ser
NR_033948.2:n.1403G>C
NR_033949.2:n.1319G>C
NR_033950.2:n.1280G>C
NR_033951.2:n.1264G>C
NR_033952.2:n.1191G>C
NR_033953.2:n.1095G>C
NR_033954.2:n.1083G>C
NR_033955.2:n.1043G>C
NR_033956.2:n.970G>C