Canonical Allele Identifier: CA386959982

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177412-G-C
• MyVariant Identifiers: chr12:g.121615215G>C (hg19) ; chr12:g.121177412G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177412G>C , CM000674.2:g.121177412G>C	GRCh38
NC_000012.11:g.121615215G>C , CM000674.1:g.121615215G>C	GRCh37
NC_000012.10:g.120099598G>C	NCBI36
NG_011471.2:g.49538G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1154G>C MANE Select	ENSP00000330696.6:p.Arg385Thr
ENST00000261826.10:c.*607G>C	ENSP00000261826.6:n.*607G>C
ENST00000328963.9:c.1154G>C	ENSP00000330696.6:p.Arg385Thr
ENST00000535250.5:c.1238G>C	ENSP00000442572.2:n.1238G>C
ENST00000535600.2:c.971G>C	ENSP00000442470.1:n.971G>C
ENST00000537312.5:c.*925G>C	ENSP00000438586.1:n.*925G>C
ENST00000538011.5:c.1293G>C	ENSP00000439247.1:n.1293G>C
ENST00000539606.5:c.1377G>C	ENSP00000445325.1:n.1377G>C
ENST00000539695.5:n.1323G>C
ENST00000541022.5:c.944G>C	ENSP00000441230.1:n.944G>C
ENST00000541564.5:c.1017G>C	ENSP00000443640.1:n.1017G>C
ENST00000541716.5:c.1165G>C	ENSP00000437729.1:n.1165G>C
NM_002562.5:c.1154G>C	NP_002553.3:p.Arg385Thr
NR_033948.1:n.1520G>C
NR_033949.1:n.1436G>C
NR_033950.1:n.1397G>C
NR_033951.1:n.1381G>C
NR_033952.1:n.1308G>C
NR_033953.1:n.1221G>C
NR_033954.1:n.1200G>C
NR_033955.1:n.1160G>C
NR_033956.1:n.1087G>C
XM_011538418.1:c.887G>C	XP_011536720.1:p.Arg296Thr
XM_011538419.1:c.842G>C	XP_011536721.1:p.Arg281Thr
XM_011538420.1:c.287G>C	XP_011536722.1:p.Arg96Thr
XR_945459.1:n.190-14995C>G
XR_945460.1:n.299-14995C>G
XM_011538419.3:c.842G>C	XP_011536721.1:p.Arg281Thr
XM_011538420.3:c.287G>C	XP_011536722.1:p.Arg96Thr
XM_017019364.2:c.794G>C	XP_016874853.1:p.Arg265Thr
XM_017019365.2:c.794G>C	XP_016874854.1:p.Arg265Thr
XM_017019366.2:c.401G>C	XP_016874855.1:p.Arg134Thr
XM_017019367.2:c.401G>C	XP_016874856.1:p.Arg134Thr
XR_001749352.2:n.186+26086C>G
XR_001749353.2:n.304-14995C>G
XR_001749354.2:n.186+26086C>G
XR_945459.3:n.187-14995C>G
XR_945460.3:n.299-14995C>G
NM_002562.6:c.1154G>C MANE Select	NP_002553.3:p.Arg385Thr
NR_033948.2:n.1472G>C
NR_033949.2:n.1388G>C
NR_033950.2:n.1349G>C
NR_033951.2:n.1333G>C
NR_033952.2:n.1260G>C
NR_033953.2:n.1164G>C
NR_033954.2:n.1152G>C
NR_033955.2:n.1112G>C
NR_033956.2:n.1039G>C