Canonical Allele Identifier: CA386959564

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177370-G-C
• MyVariant Identifiers: chr12:g.121615173G>C (hg19) ; chr12:g.121177370G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177370G>C , CM000674.2:g.121177370G>C	GRCh38
NC_000012.11:g.121615173G>C , CM000674.1:g.121615173G>C	GRCh37
NC_000012.10:g.120099556G>C	NCBI36
NG_011471.2:g.49496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1112G>C MANE Select	ENSP00000330696.6:p.Cys371Ser
ENST00000261826.10:c.*565G>C	ENSP00000261826.6:n.*565G>C
ENST00000328963.9:c.1112G>C	ENSP00000330696.6:p.Cys371Ser
ENST00000535250.5:c.1196G>C	ENSP00000442572.2:n.1196G>C
ENST00000535600.2:c.929G>C	ENSP00000442470.1:n.929G>C
ENST00000537312.5:c.*883G>C	ENSP00000438586.1:n.*883G>C
ENST00000538011.5:c.1251G>C	ENSP00000439247.1:n.1251G>C
ENST00000539606.5:c.1335G>C	ENSP00000445325.1:n.1335G>C
ENST00000539695.5:n.1281G>C
ENST00000541022.5:c.902G>C	ENSP00000441230.1:n.902G>C
ENST00000541564.5:c.975G>C	ENSP00000443640.1:n.975G>C
ENST00000541716.5:c.1123G>C	ENSP00000437729.1:n.1123G>C
NM_002562.5:c.1112G>C	NP_002553.3:p.Cys371Ser
NR_033948.1:n.1478G>C
NR_033949.1:n.1394G>C
NR_033950.1:n.1355G>C
NR_033951.1:n.1339G>C
NR_033952.1:n.1266G>C
NR_033953.1:n.1179G>C
NR_033954.1:n.1158G>C
NR_033955.1:n.1118G>C
NR_033956.1:n.1045G>C
XM_011538418.1:c.845G>C	XP_011536720.1:p.Cys282Ser
XM_011538419.1:c.800G>C	XP_011536721.1:p.Cys267Ser
XM_011538420.1:c.245G>C	XP_011536722.1:p.Cys82Ser
XR_945459.1:n.190-14953C>G
XR_945460.1:n.299-14953C>G
XM_011538419.3:c.800G>C	XP_011536721.1:p.Cys267Ser
XM_011538420.3:c.245G>C	XP_011536722.1:p.Cys82Ser
XM_017019364.2:c.752G>C	XP_016874853.1:p.Cys251Ser
XM_017019365.2:c.752G>C	XP_016874854.1:p.Cys251Ser
XM_017019366.2:c.359G>C	XP_016874855.1:p.Cys120Ser
XM_017019367.2:c.359G>C	XP_016874856.1:p.Cys120Ser
XR_001749352.2:n.186+26128C>G
XR_001749353.2:n.304-14953C>G
XR_001749354.2:n.186+26128C>G
XR_945459.3:n.187-14953C>G
XR_945460.3:n.299-14953C>G
NM_002562.6:c.1112G>C MANE Select	NP_002553.3:p.Cys371Ser
NR_033948.2:n.1430G>C
NR_033949.2:n.1346G>C
NR_033950.2:n.1307G>C
NR_033951.2:n.1291G>C
NR_033952.2:n.1218G>C
NR_033953.2:n.1122G>C
NR_033954.2:n.1110G>C
NR_033955.2:n.1070G>C
NR_033956.2:n.997G>C