Canonical Allele Identifier: CA386960047

Gene: P2RX7

Linked Data

• dbSNP Id: rs1883343678
• gnomAD v3: 12-121177419-G-C
• gnomAD v4: 12-121177419-G-C
• MyVariant Identifiers: chr12:g.121615222G>C (hg19) ; chr12:g.121177419G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177419G>C , CM000674.2:g.121177419G>C	GRCh38
NC_000012.11:g.121615222G>C , CM000674.1:g.121615222G>C	GRCh37
NC_000012.10:g.120099605G>C	NCBI36
NG_011471.2:g.49545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1161G>C MANE Select	ENSP00000330696.6:p.Lys387Asn
ENST00000261826.10:c.*614G>C	ENSP00000261826.6:n.*614G>C
ENST00000328963.9:c.1161G>C	ENSP00000330696.6:p.Lys387Asn
ENST00000535250.5:c.1245G>C	ENSP00000442572.2:n.1245G>C
ENST00000535600.2:c.978G>C	ENSP00000442470.1:n.978G>C
ENST00000537312.5:c.*932G>C	ENSP00000438586.1:n.*932G>C
ENST00000538011.5:c.1300G>C	ENSP00000439247.1:n.1300G>C
ENST00000539606.5:c.1384G>C	ENSP00000445325.1:n.1384G>C
ENST00000539695.5:n.1330G>C
ENST00000541022.5:c.951G>C	ENSP00000441230.1:n.951G>C
ENST00000541564.5:c.1024G>C	ENSP00000443640.1:n.1024G>C
ENST00000541716.5:c.1172G>C	ENSP00000437729.1:n.1172G>C
NM_002562.5:c.1161G>C	NP_002553.3:p.Lys387Asn
NR_033948.1:n.1527G>C
NR_033949.1:n.1443G>C
NR_033950.1:n.1404G>C
NR_033951.1:n.1388G>C
NR_033952.1:n.1315G>C
NR_033953.1:n.1228G>C
NR_033954.1:n.1207G>C
NR_033955.1:n.1167G>C
NR_033956.1:n.1094G>C
XM_011538418.1:c.894G>C	XP_011536720.1:p.Lys298Asn
XM_011538419.1:c.849G>C	XP_011536721.1:p.Lys283Asn
XM_011538420.1:c.294G>C	XP_011536722.1:p.Lys98Asn
XR_945459.1:n.190-15002C>G
XR_945460.1:n.299-15002C>G
XM_011538419.3:c.849G>C	XP_011536721.1:p.Lys283Asn
XM_011538420.3:c.294G>C	XP_011536722.1:p.Lys98Asn
XM_017019364.2:c.801G>C	XP_016874853.1:p.Lys267Asn
XM_017019365.2:c.801G>C	XP_016874854.1:p.Lys267Asn
XM_017019366.2:c.408G>C	XP_016874855.1:p.Lys136Asn
XM_017019367.2:c.408G>C	XP_016874856.1:p.Lys136Asn
XR_001749352.2:n.186+26079C>G
XR_001749353.2:n.304-15002C>G
XR_001749354.2:n.186+26079C>G
XR_945459.3:n.187-15002C>G
XR_945460.3:n.299-15002C>G
NM_002562.6:c.1161G>C MANE Select	NP_002553.3:p.Lys387Asn
NR_033948.2:n.1479G>C
NR_033949.2:n.1395G>C
NR_033950.2:n.1356G>C
NR_033951.2:n.1340G>C
NR_033952.2:n.1267G>C
NR_033953.2:n.1171G>C
NR_033954.2:n.1159G>C
NR_033955.2:n.1119G>C
NR_033956.2:n.1046G>C