Canonical Allele Identifier: CA607882464

Gene: P2RX7

Linked Data

• dbSNP Id: rs1565930628
• gnomAD v2: 12-121570739-TGG-T
• gnomAD v4: 12-121132936-TGG-T
• MyVariant Identifiers: chr12:g.121570740_121570741del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132937_121132938del , CM000674.2:g.121132937_121132938del	GRCh38
NC_000012.11:g.121570740_121570741del , CM000674.1:g.121570740_121570741del	GRCh37
NC_000012.10:g.120055123_120055124del	NCBI36
NG_011471.2:g.5063_5064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-34_-33del MANE Select	ENSP00000330696.6:n.-34_-33del
ENST00000261826.10:c.-34_-33del	ENSP00000261826.6:n.-34_-33del
ENST00000328963.9:c.-34_-33del	ENSP00000330696.6:n.-34_-33del
ENST00000535928.5:c.-34_-33del	ENSP00000439961.1:n.-34_-33del
ENST00000537312.5:c.-34_-33del	ENSP00000438586.1:n.-34_-33del
ENST00000539695.5:n.36_37del
ENST00000545434.5:c.-34_-33del	ENSP00000445564.1:n.-34_-33del
NM_002562.5:c.-34_-33del	NP_002553.3:n.-34_-33del
NR_033948.1:n.110_111del
NR_033949.1:n.110_111del
NR_033950.1:n.110_111del
NR_033951.1:n.110_111del
NR_033952.1:n.110_111del
NR_033953.1:n.119_120del
NR_033954.1:n.110_111del
NR_033955.1:n.110_111del
NR_033956.1:n.110_111del
XM_011538418.1:c.-34_-33del	XP_011536720.1:n.-34_-33del
XM_011538419.1:c.-177_-176del	XP_011536721.1:n.-177_-176del
XM_011538419.3:c.-177_-176del	XP_011536721.1:n.-177_-176del
XM_017019364.2:c.-547_-546del	XP_016874853.1:n.-547_-546del
XM_017019365.2:c.-378_-377del	XP_016874854.1:n.-378_-377del
XM_017019366.2:c.-714_-713del	XP_016874855.1:n.-714_-713del
XM_017019367.2:c.-545_-544del	XP_016874856.1:n.-545_-544del
XR_001749352.2:n.187-6097_187-6096del
XR_001749354.2:n.187-6097_187-6096del
NM_002562.6:c.-34_-33del MANE Select	NP_002553.3:n.-34_-33del
NR_033948.2:n.62_63del
NR_033949.2:n.62_63del
NR_033950.2:n.62_63del
NR_033951.2:n.62_63del
NR_033952.2:n.62_63del
NR_033953.2:n.62_63del
NR_033954.2:n.62_63del
NR_033955.2:n.62_63del
NR_033956.2:n.62_63del