Canonical Allele Identifier: CA6891462

Gene: P2RX2

Linked Data

• ClinVar Variation Id: 504852
• ClinVar RCV Id: RCV000602869 ; RCV001328769 ; RCV001563185
• dbSNP Id: rs200978001
• ExAC: 12:133196338 T / C
• gnomAD v2: 12-133196338-T-C
• gnomAD v3: 12-132619752-T-C
• gnomAD v4: 12-132619752-T-C
• MyVariant Identifiers: chr12:g.133196338T>C (hg19) ; chr12:g.132619752T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132619752T>C , CM000674.2:g.132619752T>C	GRCh38
NC_000012.11:g.133196338T>C , CM000674.1:g.133196338T>C	GRCh37
NC_000012.10:g.131706411T>C	NCBI36
NG_033909.1:g.5973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643471.2:c.381+2T>C MANE Select	ENSP00000494644.1:n.381+2T>C
ENST00000343948.8:c.381+2T>C	ENSP00000343339.4:n.381+2T>C
ENST00000348800.9:c.381+2T>C	ENSP00000345095.5:n.381+2T>C
ENST00000350048.9:c.310-92T>C	ENSP00000343904.5:n.310-92T>C
ENST00000351222.8:c.106-92T>C	ENSP00000344502.4:n.106-92T>C
ENST00000352418.8:c.241+178T>C	ENSP00000341419.4:n.241+178T>C
ENST00000389110.7:c.381+2T>C	ENSP00000373762.3:n.381+2T>C
ENST00000449132.6:c.310-92T>C	ENSP00000405531.2:n.310-92T>C
ENST00000542301.2:c.381+2T>C	ENSP00000444477.2:n.381+2T>C
NM_001282164.1:c.310-92T>C	NP_001269093.1:n.310-92T>C
NM_001282165.1:c.381+2T>C	NP_001269094.1:n.381+2T>C
NM_012226.4:c.241+178T>C	NP_036358.2:n.241+178T>C
NM_016318.3:c.310-92T>C	NP_057402.1:n.310-92T>C
NM_170682.3:c.381+2T>C	NP_733782.1:n.381+2T>C
NM_170683.3:c.381+2T>C	NP_733783.1:n.381+2T>C
NM_174872.2:c.106-92T>C	NP_777361.1:n.106-92T>C
NM_174873.2:c.381+2T>C	NP_777362.1:n.381+2T>C
XM_005266154.2:c.381+2T>C	XP_005266211.1:n.381+2T>C
XM_005266155.3:c.381+2T>C	XP_005266212.1:n.381+2T>C
XM_005266156.3:c.381+2T>C	XP_005266213.1:n.381+2T>C
XM_011534786.1:c.310-92T>C	XP_011533088.1:n.310-92T>C
XM_005266154.4:c.381+2T>C	XP_005266211.1:n.381+2T>C
XM_005266155.5:c.381+2T>C	XP_005266212.1:n.381+2T>C
XM_005266156.5:c.381+2T>C	XP_005266213.1:n.381+2T>C
XM_011534786.3:c.310-92T>C	XP_011533088.1:n.310-92T>C
XM_017019035.2:c.381+2T>C	XP_016874524.1:n.381+2T>C
NM_001282164.2:c.310-92T>C	NP_001269093.1:n.310-92T>C
NM_001282165.2:c.381+2T>C	NP_001269094.1:n.381+2T>C
NM_012226.5:c.241+178T>C	NP_036358.2:n.241+178T>C
NM_016318.4:c.310-92T>C	NP_057402.1:n.310-92T>C
NM_170682.4:c.381+2T>C MANE Select	NP_733782.1:n.381+2T>C
NM_170683.4:c.381+2T>C	NP_733783.1:n.381+2T>C
NM_174872.3:c.106-92T>C	NP_777361.1:n.106-92T>C
NM_174873.3:c.381+2T>C	NP_777362.1:n.381+2T>C