Canonical Allele Identifier: CA684524320

Gene: P2RX7

Linked Data

• dbSNP Id: rs1157729434
• gnomAD v3: 12-121132908-T-TGTGG
• gnomAD v4: 12-121132908-T-TGTGG
• MyVariant Identifiers: chr12:g.121570711_121570712insGTGG (hg19) ; chr12:g.121132908_121132909insGTGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132909_121132912dup , CM000674.2:g.121132909_121132912dup	GRCh38
NC_000012.11:g.121570712_121570715dup , CM000674.1:g.121570712_121570715dup	GRCh37
NC_000012.10:g.120055095_120055098dup	NCBI36
NG_011471.2:g.5035_5038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-62_-59dup MANE Select	ENSP00000330696.6:n.-62_-59dup
ENST00000328963.9:c.-62_-59dup	ENSP00000330696.6:n.-62_-59dup
ENST00000535928.5:c.-62_-59dup	ENSP00000439961.1:n.-62_-59dup
ENST00000537312.5:c.-62_-59dup	ENSP00000438586.1:n.-62_-59dup
ENST00000539695.5:n.8_11dup
NM_002562.5:c.-62_-59dup	NP_002553.3:n.-62_-59dup
NR_033948.1:n.82_85dup
NR_033949.1:n.82_85dup
NR_033950.1:n.82_85dup
NR_033951.1:n.82_85dup
NR_033952.1:n.82_85dup
NR_033953.1:n.91_94dup
NR_033954.1:n.82_85dup
NR_033955.1:n.82_85dup
NR_033956.1:n.82_85dup
XM_011538418.1:c.-62_-59dup	XP_011536720.1:n.-62_-59dup
XM_011538419.1:c.-205_-202dup	XP_011536721.1:n.-205_-202dup
XM_011538419.3:c.-205_-202dup	XP_011536721.1:n.-205_-202dup
XM_017019364.2:c.-575_-572dup	XP_016874853.1:n.-575_-572dup
XM_017019366.2:c.-742_-739dup	XP_016874855.1:n.-742_-739dup
XM_017019367.2:c.-573_-570dup	XP_016874856.1:n.-573_-570dup
XR_001749352.2:n.187-6071_187-6068dup
XR_001749354.2:n.187-6071_187-6068dup
NM_002562.6:c.-62_-59dup MANE Select	NP_002553.3:n.-62_-59dup
NR_033948.2:n.34_37dup
NR_033949.2:n.34_37dup
NR_033950.2:n.34_37dup
NR_033951.2:n.34_37dup
NR_033952.2:n.34_37dup
NR_033953.2:n.34_37dup
NR_033954.2:n.34_37dup
NR_033955.2:n.34_37dup
NR_033956.2:n.34_37dup