Canonical Allele Identifier: CA607882462

Gene: P2RX7

Linked Data

• dbSNP Id: rs1197188465
• gnomAD v2: 12-121570727-AGAG-A
• gnomAD v3: 12-121132924-AGAG-A
• gnomAD v4: 12-121132924-AGAG-A
• MyVariant Identifiers: chr12:g.121570728_121570730del (hg19) ; chr12:g.121132925_121132927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132925_121132927del , CM000674.2:g.121132925_121132927del	GRCh38
NC_000012.11:g.121570728_121570730del , CM000674.1:g.121570728_121570730del	GRCh37
NC_000012.10:g.120055111_120055113del	NCBI36
NG_011471.2:g.5051_5053del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-46_-44del MANE Select	ENSP00000330696.6:n.-46_-44del
ENST00000328963.9:c.-46_-44del	ENSP00000330696.6:n.-46_-44del
ENST00000535928.5:c.-46_-44del	ENSP00000439961.1:n.-46_-44del
ENST00000537312.5:c.-46_-44del	ENSP00000438586.1:n.-46_-44del
ENST00000539695.5:n.24_26del
NM_002562.5:c.-46_-44del	NP_002553.3:n.-46_-44del
NR_033948.1:n.98_100del
NR_033949.1:n.98_100del
NR_033950.1:n.98_100del
NR_033951.1:n.98_100del
NR_033952.1:n.98_100del
NR_033953.1:n.107_109del
NR_033954.1:n.98_100del
NR_033955.1:n.98_100del
NR_033956.1:n.98_100del
XM_011538418.1:c.-46_-44del	XP_011536720.1:n.-46_-44del
XM_011538419.1:c.-189_-187del	XP_011536721.1:n.-189_-187del
XM_011538419.3:c.-189_-187del	XP_011536721.1:n.-189_-187del
XM_017019364.2:c.-559_-557del	XP_016874853.1:n.-559_-557del
XM_017019366.2:c.-726_-724del	XP_016874855.1:n.-726_-724del
XM_017019367.2:c.-557_-555del	XP_016874856.1:n.-557_-555del
XR_001749352.2:n.187-6086_187-6084del
XR_001749354.2:n.187-6086_187-6084del
NM_002562.6:c.-46_-44del MANE Select	NP_002553.3:n.-46_-44del
NR_033948.2:n.50_52del
NR_033949.2:n.50_52del
NR_033950.2:n.50_52del
NR_033951.2:n.50_52del
NR_033952.2:n.50_52del
NR_033953.2:n.50_52del
NR_033954.2:n.50_52del
NR_033955.2:n.50_52del
NR_033956.2:n.50_52del