Canonical Allele Identifier: CA6833038

Gene: P2RX7

Linked Data

• dbSNP Id: rs769636338
• ExAC: 12:121570739 T / C
• gnomAD v2: 12-121570739-T-C
• MyVariant Identifiers: chr12:g.121570739T>C (hg19) ; chr12:g.121570739_121570741delinsCGG (hg19) ; chr12:g.121132936T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132936T>C , CM000674.2:g.121132936T>C	GRCh38
NC_000012.11:g.121570739T>C , CM000674.1:g.121570739T>C	GRCh37
NC_000012.10:g.120055122T>C	NCBI36
NG_011471.2:g.5062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.-35T>C MANE Select	ENSP00000330696.6:n.-35T>C
ENST00000261826.10:c.-35T>C	ENSP00000261826.6:n.-35T>C
ENST00000328963.9:c.-35T>C	ENSP00000330696.6:n.-35T>C
ENST00000535928.5:c.-35T>C	ENSP00000439961.1:n.-35T>C
ENST00000537312.5:c.-35T>C	ENSP00000438586.1:n.-35T>C
ENST00000539695.5:n.35T>C
ENST00000545434.5:c.-35T>C	ENSP00000445564.1:n.-35T>C
NM_002562.5:c.-35T>C	NP_002553.3:n.-35T>C
NR_033948.1:n.109T>C
NR_033949.1:n.109T>C
NR_033950.1:n.109T>C
NR_033951.1:n.109T>C
NR_033952.1:n.109T>C
NR_033953.1:n.118T>C
NR_033954.1:n.109T>C
NR_033955.1:n.109T>C
NR_033956.1:n.109T>C
XM_011538418.1:c.-35T>C	XP_011536720.1:n.-35T>C
XM_011538419.1:c.-178T>C	XP_011536721.1:n.-178T>C
XM_011538419.3:c.-178T>C	XP_011536721.1:n.-178T>C
XM_017019364.2:c.-548T>C	XP_016874853.1:n.-548T>C
XM_017019365.2:c.-379T>C	XP_016874854.1:n.-379T>C
XM_017019366.2:c.-715T>C	XP_016874855.1:n.-715T>C
XM_017019367.2:c.-546T>C	XP_016874856.1:n.-546T>C
XR_001749352.2:n.187-6095A>G
XR_001749354.2:n.187-6095A>G
NM_002562.6:c.-35T>C MANE Select	NP_002553.3:n.-35T>C
NR_033948.2:n.61T>C
NR_033949.2:n.61T>C
NR_033950.2:n.61T>C
NR_033951.2:n.61T>C
NR_033952.2:n.61T>C
NR_033953.2:n.61T>C
NR_033954.2:n.61T>C
NR_033955.2:n.61T>C
NR_033956.2:n.61T>C