Canonical Allele Identifier: CA386960059

Gene: P2RX7

Linked Data

• MyVariant Identifiers: chr12:g.121615224G>C (hg19) ; chr12:g.121177421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177421G>C , CM000674.2:g.121177421G>C	GRCh38
NC_000012.11:g.121615224G>C , CM000674.1:g.121615224G>C	GRCh37
NC_000012.10:g.120099607G>C	NCBI36
NG_011471.2:g.49547G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1163G>C MANE Select	ENSP00000330696.6:p.Cys388Ser
ENST00000261826.10:c.*616G>C	ENSP00000261826.6:n.*616G>C
ENST00000328963.9:c.1163G>C	ENSP00000330696.6:p.Cys388Ser
ENST00000535250.5:c.1247G>C	ENSP00000442572.2:n.1247G>C
ENST00000535600.2:c.980G>C	ENSP00000442470.1:n.980G>C
ENST00000537312.5:c.*934G>C	ENSP00000438586.1:n.*934G>C
ENST00000538011.5:c.1302G>C	ENSP00000439247.1:n.1302G>C
ENST00000539606.5:c.1386G>C	ENSP00000445325.1:n.1386G>C
ENST00000539695.5:n.1332G>C
ENST00000541022.5:c.953G>C	ENSP00000441230.1:n.953G>C
ENST00000541564.5:c.1026G>C	ENSP00000443640.1:n.1026G>C
ENST00000541716.5:c.1174G>C	ENSP00000437729.1:n.1174G>C
NM_002562.5:c.1163G>C	NP_002553.3:p.Cys388Ser
NR_033948.1:n.1529G>C
NR_033949.1:n.1445G>C
NR_033950.1:n.1406G>C
NR_033951.1:n.1390G>C
NR_033952.1:n.1317G>C
NR_033953.1:n.1230G>C
NR_033954.1:n.1209G>C
NR_033955.1:n.1169G>C
NR_033956.1:n.1096G>C
XM_011538418.1:c.896G>C	XP_011536720.1:p.Cys299Ser
XM_011538419.1:c.851G>C	XP_011536721.1:p.Cys284Ser
XM_011538420.1:c.296G>C	XP_011536722.1:p.Cys99Ser
XR_945459.1:n.190-15004C>G
XR_945460.1:n.299-15004C>G
XM_011538419.3:c.851G>C	XP_011536721.1:p.Cys284Ser
XM_011538420.3:c.296G>C	XP_011536722.1:p.Cys99Ser
XM_017019364.2:c.803G>C	XP_016874853.1:p.Cys268Ser
XM_017019365.2:c.803G>C	XP_016874854.1:p.Cys268Ser
XM_017019366.2:c.410G>C	XP_016874855.1:p.Cys137Ser
XM_017019367.2:c.410G>C	XP_016874856.1:p.Cys137Ser
XR_001749352.2:n.186+26077C>G
XR_001749353.2:n.304-15004C>G
XR_001749354.2:n.186+26077C>G
XR_945459.3:n.187-15004C>G
XR_945460.3:n.299-15004C>G
NM_002562.6:c.1163G>C MANE Select	NP_002553.3:p.Cys388Ser
NR_033948.2:n.1481G>C
NR_033949.2:n.1397G>C
NR_033950.2:n.1358G>C
NR_033951.2:n.1342G>C
NR_033952.2:n.1269G>C
NR_033953.2:n.1173G>C
NR_033954.2:n.1161G>C
NR_033955.2:n.1121G>C
NR_033956.2:n.1048G>C