Canonical Allele Identifier: CA246280640

Gene: P2RX2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132621606C>G , CM000674.2:g.132621606C>G	GRCh38
NC_000012.11:g.133198192C>G , CM000674.1:g.133198192C>G	GRCh37
NC_000012.10:g.131708265C>G	NCBI36
NG_033909.1:g.7827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643471.2:c.1063-13C>G MANE Select	ENSP00000494644.1:n.1063-13C>G
ENST00000343948.8:c.1128C>G	ENSP00000343339.4:p.Leu376=
ENST00000348800.9:c.1063-13C>G	ENSP00000345095.5:n.1063-13C>G
ENST00000350048.9:c.991-13C>G	ENSP00000343904.5:n.991-13C>G
ENST00000351222.8:c.787-13C>G	ENSP00000344502.4:n.787-13C>G
ENST00000352418.8:c.847-13C>G	ENSP00000341419.4:n.847-13C>G
ENST00000389110.7:c.1063-13C>G	ENSP00000373762.3:n.1063-13C>G
ENST00000449132.6:c.961-13C>G	ENSP00000405531.2:n.961-13C>G
ENST00000542301.2:c.1147C>G	ENSP00000444477.2:n.1147C>G
NM_001282164.1:c.961-13C>G	NP_001269093.1:n.961-13C>G
NM_001282165.1:c.*97C>G	NP_001269094.1:n.*97C>G
NM_012226.4:c.847-13C>G	NP_036358.2:n.847-13C>G
NM_016318.3:c.991-13C>G	NP_057402.1:n.991-13C>G
NM_170682.3:c.1063-13C>G	NP_733782.1:n.1063-13C>G
NM_170683.3:c.1128C>G	NP_733783.1:p.Leu376=
NM_174872.2:c.787-13C>G	NP_777361.1:n.787-13C>G
NM_174873.2:c.1063-13C>G	NP_777362.1:n.1063-13C>G
XM_005266154.2:c.1186-13C>G	XP_005266211.1:n.1186-13C>G
XM_005266155.3:c.1128C>G	XP_005266212.1:p.Leu376=
XM_005266156.3:c.1128C>G	XP_005266213.1:p.Leu376=
XM_011534786.1:c.1056C>G	XP_011533088.1:p.Leu352=
XM_005266154.4:c.1186-13C>G	XP_005266211.1:n.1186-13C>G
XM_005266155.5:c.1128C>G	XP_005266212.1:p.Leu376=
XM_005266156.5:c.1128C>G	XP_005266213.1:p.Leu376=
XM_011534786.3:c.1056C>G	XP_011533088.1:p.Leu352=
XM_017019035.2:c.1063-13C>G	XP_016874524.1:n.1063-13C>G
NM_001282164.2:c.961-13C>G	NP_001269093.1:n.961-13C>G
NM_001282165.2:c.*97C>G	NP_001269094.1:n.*97C>G
NM_012226.5:c.847-13C>G	NP_036358.2:n.847-13C>G
NM_016318.4:c.991-13C>G	NP_057402.1:n.991-13C>G
NM_170682.4:c.1063-13C>G MANE Select	NP_733782.1:n.1063-13C>G
NM_170683.4:c.1128C>G	NP_733783.1:p.Leu376=
NM_174872.3:c.787-13C>G	NP_777361.1:n.787-13C>G
NM_174873.3:c.1063-13C>G	NP_777362.1:n.1063-13C>G