Canonical Allele Identifier: CA170681
Gene: P2RX2 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.132621535G>C , CM000674.2:g.132621535G>C GRCh38
NC_000012.11:g.133198121G>C , CM000674.1:g.133198121G>C GRCh37
NC_000012.10:g.131708194G>C NCBI36
NG_033909.1:g.7756G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000643471.2:c.1057G>C MANE Select ENSP00000494644.1:p.Gly353Arg
ENST00000343948.8:c.1057G>C ENSP00000343339.4:p.Gly353Arg
ENST00000348800.9:c.1057G>C ENSP00000345095.5:p.Gly353Arg
ENST00000350048.9:c.985G>C ENSP00000343904.5:p.Gly329Arg
ENST00000351222.8:c.781G>C ENSP00000344502.4:p.Gly261Arg
ENST00000352418.8:c.841G>C ENSP00000341419.4:p.Gly281Arg
ENST00000389110.7:c.1057G>C ENSP00000373762.3:p.Gly353Arg
ENST00000449132.6:c.955G>C ENSP00000405531.2:p.Gly319Arg
ENST00000542301.2:c.1076G>C ENSP00000444477.2:n.1076G>C
NM_001282164.1:c.955G>C NP_001269093.1:p.Gly319Arg
NM_001282165.1:c.*26G>C NP_001269094.1:n.*26G>C
NM_012226.4:c.841G>C NP_036358.2:p.Gly281Arg
NM_016318.3:c.985G>C NP_057402.1:p.Gly329Arg
NM_170682.3:c.1057G>C NP_733782.1:p.Gly353Arg
NM_170683.3:c.1057G>C NP_733783.1:p.Gly353Arg
NM_174872.2:c.781G>C NP_777361.1:p.Gly261Arg
NM_174873.2:c.1057G>C NP_777362.1:p.Gly353Arg
XM_005266154.2:c.1180G>C XP_005266211.1:p.Gly394Arg
XM_005266155.3:c.1057G>C XP_005266212.1:p.Gly353Arg
XM_005266156.3:c.1057G>C XP_005266213.1:p.Gly353Arg
XM_011534786.1:c.985G>C XP_011533088.1:p.Gly329Arg
XM_005266154.4:c.1180G>C XP_005266211.1:p.Gly394Arg
XM_005266155.5:c.1057G>C XP_005266212.1:p.Gly353Arg
XM_005266156.5:c.1057G>C XP_005266213.1:p.Gly353Arg
XM_011534786.3:c.985G>C XP_011533088.1:p.Gly329Arg
XM_017019035.2:c.1057G>C XP_016874524.1:p.Gly353Arg
NM_001282164.2:c.955G>C NP_001269093.1:p.Gly319Arg
NM_001282165.2:c.*26G>C NP_001269094.1:n.*26G>C
NM_012226.5:c.841G>C NP_036358.2:p.Gly281Arg
NM_016318.4:c.985G>C NP_057402.1:p.Gly329Arg
NM_170682.4:c.1057G>C MANE Select NP_733782.1:p.Gly353Arg
NM_170683.4:c.1057G>C NP_733783.1:p.Gly353Arg
NM_174872.3:c.781G>C NP_777361.1:p.Gly261Arg
NM_174873.3:c.1057G>C NP_777362.1:p.Gly353Arg