Canonical Allele Identifier: CA6891597

Gene: P2RX2

Linked Data

• ClinVar Variation Id: 226986
• ClinVar RCV Id: RCV000217713 ; RCV001689749 ; RCV001788081
• dbSNP Id: rs6560891
• ExAC: 12:133197018 G / A
• gnomAD v2: 12-133197018-G-A
• gnomAD v3: 12-132620432-G-A
• gnomAD v4: 12-132620432-G-A
• MyVariant Identifiers: chr12:g.133197018G>A (hg19) ; chr12:g.132620432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132620432G>A , CM000674.2:g.132620432G>A	GRCh38
NC_000012.11:g.133197018G>A , CM000674.1:g.133197018G>A	GRCh37
NC_000012.10:g.131707091G>A	NCBI36
NG_033909.1:g.6653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643471.2:c.636-13G>A MANE Select	ENSP00000494644.1:n.636-13G>A
ENST00000343948.8:c.636-13G>A	ENSP00000343339.4:n.636-13G>A
ENST00000348800.9:c.636-13G>A	ENSP00000345095.5:n.636-13G>A
ENST00000350048.9:c.564-13G>A	ENSP00000343904.5:n.564-13G>A
ENST00000351222.8:c.360-13G>A	ENSP00000344502.4:n.360-13G>A
ENST00000352418.8:c.420-13G>A	ENSP00000341419.4:n.420-13G>A
ENST00000389110.7:c.636-13G>A	ENSP00000373762.3:n.636-13G>A
ENST00000449132.6:c.529-13G>A	ENSP00000405531.2:n.529-13G>A
ENST00000542301.2:c.636-13G>A	ENSP00000444477.2:n.636-13G>A
NM_001282164.1:c.529-13G>A	NP_001269093.1:n.529-13G>A
NM_001282165.1:c.636-13G>A	NP_001269094.1:n.636-13G>A
NM_012226.4:c.420-13G>A	NP_036358.2:n.420-13G>A
NM_016318.3:c.564-13G>A	NP_057402.1:n.564-13G>A
NM_170682.3:c.636-13G>A	NP_733782.1:n.636-13G>A
NM_170683.3:c.636-13G>A	NP_733783.1:n.636-13G>A
NM_174872.2:c.360-13G>A	NP_777361.1:n.360-13G>A
NM_174873.2:c.636-13G>A	NP_777362.1:n.636-13G>A
XM_005266154.2:c.636-13G>A	XP_005266211.1:n.636-13G>A
XM_005266155.3:c.636-13G>A	XP_005266212.1:n.636-13G>A
XM_005266156.3:c.636-13G>A	XP_005266213.1:n.636-13G>A
XM_011534786.1:c.564-13G>A	XP_011533088.1:n.564-13G>A
XM_005266154.4:c.636-13G>A	XP_005266211.1:n.636-13G>A
XM_005266155.5:c.636-13G>A	XP_005266212.1:n.636-13G>A
XM_005266156.5:c.636-13G>A	XP_005266213.1:n.636-13G>A
XM_011534786.3:c.564-13G>A	XP_011533088.1:n.564-13G>A
XM_017019035.2:c.636-13G>A	XP_016874524.1:n.636-13G>A
NM_001282164.2:c.529-13G>A	NP_001269093.1:n.529-13G>A
NM_001282165.2:c.636-13G>A	NP_001269094.1:n.636-13G>A
NM_012226.5:c.420-13G>A	NP_036358.2:n.420-13G>A
NM_016318.4:c.564-13G>A	NP_057402.1:n.564-13G>A
NM_170682.4:c.636-13G>A MANE Select	NP_733782.1:n.636-13G>A
NM_170683.4:c.636-13G>A	NP_733783.1:n.636-13G>A
NM_174872.3:c.360-13G>A	NP_777361.1:n.360-13G>A
NM_174873.3:c.636-13G>A	NP_777362.1:n.636-13G>A