Canonical Allele Identifier: CA684524326

Gene: P2RX7

Linked Data

• dbSNP Id: rs1250131562
• gnomAD v3: 12-121132931-A-G
• gnomAD v4: 12-121132931-A-G
• MyVariant Identifiers: chr12:g.121570734A>G (hg19) ; chr12:g.121132931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132931A>G , CM000674.2:g.121132931A>G	GRCh38
NC_000012.11:g.121570734A>G , CM000674.1:g.121570734A>G	GRCh37
NC_000012.10:g.120055117A>G	NCBI36
NG_011471.2:g.5057A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-40A>G MANE Select	ENSP00000330696.6:n.-40A>G
ENST00000261826.10:c.-40A>G	ENSP00000261826.6:n.-40A>G
ENST00000328963.9:c.-40A>G	ENSP00000330696.6:n.-40A>G
ENST00000535928.5:c.-40A>G	ENSP00000439961.1:n.-40A>G
ENST00000537312.5:c.-40A>G	ENSP00000438586.1:n.-40A>G
ENST00000539695.5:n.30A>G
ENST00000545434.5:c.-40A>G	ENSP00000445564.1:n.-40A>G
NM_002562.5:c.-40A>G	NP_002553.3:n.-40A>G
NR_033948.1:n.104A>G
NR_033949.1:n.104A>G
NR_033950.1:n.104A>G
NR_033951.1:n.104A>G
NR_033952.1:n.104A>G
NR_033953.1:n.113A>G
NR_033954.1:n.104A>G
NR_033955.1:n.104A>G
NR_033956.1:n.104A>G
XM_011538418.1:c.-40A>G	XP_011536720.1:n.-40A>G
XM_011538419.1:c.-183A>G	XP_011536721.1:n.-183A>G
XM_011538419.3:c.-183A>G	XP_011536721.1:n.-183A>G
XM_017019364.2:c.-553A>G	XP_016874853.1:n.-553A>G
XM_017019365.2:c.-384A>G	XP_016874854.1:n.-384A>G
XM_017019366.2:c.-720A>G	XP_016874855.1:n.-720A>G
XM_017019367.2:c.-551A>G	XP_016874856.1:n.-551A>G
XR_001749352.2:n.187-6090T>C
XR_001749354.2:n.187-6090T>C
NM_002562.6:c.-40A>G MANE Select	NP_002553.3:n.-40A>G
NR_033948.2:n.56A>G
NR_033949.2:n.56A>G
NR_033950.2:n.56A>G
NR_033951.2:n.56A>G
NR_033952.2:n.56A>G
NR_033953.2:n.56A>G
NR_033954.2:n.56A>G
NR_033955.2:n.56A>G
NR_033956.2:n.56A>G