Canonical Allele Identifier: CA684524319

Gene: P2RX7

Linked Data

• dbSNP Id: rs1174934373
• gnomAD v3: 12-121132900-G-C
• gnomAD v4: 12-121132900-G-C
• MyVariant Identifiers: chr12:g.121570703G>C (hg19) ; chr12:g.121132900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132900G>C , CM000674.2:g.121132900G>C	GRCh38
NC_000012.11:g.121570703G>C , CM000674.1:g.121570703G>C	GRCh37
NC_000012.10:g.120055086G>C	NCBI36
NG_011471.2:g.5026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-71G>C MANE Select	ENSP00000330696.6:n.-71G>C
ENST00000328963.9:c.-71G>C	ENSP00000330696.6:n.-71G>C
ENST00000535928.5:c.-71G>C	ENSP00000439961.1:n.-71G>C
ENST00000537312.5:c.-71G>C	ENSP00000438586.1:n.-71G>C
NM_002562.5:c.-71G>C	NP_002553.3:n.-71G>C
NR_033948.1:n.73G>C
NR_033949.1:n.73G>C
NR_033950.1:n.73G>C
NR_033951.1:n.73G>C
NR_033952.1:n.73G>C
NR_033953.1:n.82G>C
NR_033954.1:n.73G>C
NR_033955.1:n.73G>C
NR_033956.1:n.73G>C
XM_011538418.1:c.-71G>C	XP_011536720.1:n.-71G>C
XM_011538419.1:c.-214G>C	XP_011536721.1:n.-214G>C
XM_011538419.3:c.-214G>C	XP_011536721.1:n.-214G>C
XM_017019364.2:c.-584G>C	XP_016874853.1:n.-584G>C
XM_017019366.2:c.-751G>C	XP_016874855.1:n.-751G>C
XM_017019367.2:c.-582G>C	XP_016874856.1:n.-582G>C
XR_001749352.2:n.187-6059C>G
XR_001749354.2:n.187-6059C>G
NM_002562.6:c.-71G>C MANE Select	NP_002553.3:n.-71G>C
NR_033948.2:n.25G>C
NR_033949.2:n.25G>C
NR_033950.2:n.25G>C
NR_033951.2:n.25G>C
NR_033952.2:n.25G>C
NR_033953.2:n.25G>C
NR_033954.2:n.25G>C
NR_033955.2:n.25G>C
NR_033956.2:n.25G>C