Canonical Allele Identifier: CA16616919

Gene: RASGRP2

Linked Data

• ClinVar Variation Id: 417937
• ClinVar RCV Id: RCV000477816
• dbSNP Id: rs1555122100
• MyVariant Identifiers: chr11:g.64497599dupG (hg19) ; chr11:g.64497598_64497599insG (hg19) ; chr11:g.64730127dupG (hg38) ; chr11:g.64730126_64730127insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64730127dup , CM000673.2:g.64730127dup	GRCh38
NC_000011.9:g.64497599dup , CM000673.1:g.64497599dup	GRCh37
NC_000011.8:g.64254175dup	NCBI36
NG_007574.1:g.20330dup , LRG_100:g.20330dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394432.8:c.1480dup MANE Select	ENSP00000377953.3:p.Arg494ProfsTer?
ENST00000354024.7:c.1480dup	ENSP00000338864.3:p.Arg494ProfsTer?
ENST00000377494.5:c.1480dup	ENSP00000366714.1:p.Arg494ProfsTer?
ENST00000377497.7:c.1480dup	ENSP00000366717.3:p.Arg494ProfsTer?
ENST00000394432.7:c.1480dup	ENSP00000377953.3:p.Arg494ProfsTer?
ENST00000421556.5:c.*1208dup	ENSP00000401510.1:n.*1208dup
ENST00000464324.5:n.1829dup
ENST00000488071.1:n.223dup
NM_001098670.1:c.1480dup	NP_001092140.1:p.Arg494ProfsTer?
NM_001098671.1:c.1480dup	NP_001092141.1:p.Arg494ProfsTer?
NM_153819.1:c.1480dup , LRG_100t1:c.1480dup	NP_722541.1:p.Arg494ProfsTer?
XM_005273707.3:c.1795dup	XP_005273764.3:p.Arg599ProfsTer?
XM_011544718.1:c.1795dup	XP_011543020.1:p.Arg599ProfsTer?
XM_011544719.1:c.1795dup	XP_011543021.1:p.Arg599ProfsTer?
XM_011544720.1:c.1480dup	XP_011543022.1:p.Arg494ProfsTer?
XM_011544721.1:c.1480dup	XP_011543023.1:p.Arg494ProfsTer?
XM_011544722.1:c.1480dup	XP_011543024.1:p.Arg494ProfsTer?
XM_011544723.1:c.1480dup	XP_011543025.1:p.Arg494ProfsTer?
XM_011544724.1:c.1480dup	XP_011543026.1:p.Arg494ProfsTer?
XM_011544725.1:c.1045dup	XP_011543027.1:p.Arg349ProfsTer?
NM_001318398.1:c.1045dup	NP_001305327.1:p.Arg349ProfsTer?
XM_005273707.4:c.1795dup	XP_005273764.3:p.Arg599ProfsTer?
XM_011544718.2:c.1795dup	XP_011543020.1:p.Arg599ProfsTer?
XM_011544720.2:c.1480dup	XP_011543022.1:p.Arg494ProfsTer?
XM_011544722.2:c.1480dup	XP_011543024.1:p.Arg494ProfsTer?
XM_011544723.3:c.1480dup	XP_011543025.1:p.Arg494ProfsTer?
XM_011544725.2:c.1045dup	XP_011543027.1:p.Arg349ProfsTer?
XM_017017082.2:c.2344dup	XP_016872571.1:p.Arg782ProfsTer?
XM_017017083.2:c.2344dup	XP_016872572.1:p.Arg782ProfsTer?
XM_017017084.2:c.1480dup	XP_016872573.1:p.Arg494ProfsTer?
XM_017017085.2:c.1303dup	XP_016872574.1:p.Arg435ProfsTer?
XM_017017086.1:c.1045dup	XP_016872575.1:p.Arg349ProfsTer?
NM_001098671.2:c.1480dup MANE Select	NP_001092141.1:p.Arg494ProfsTer?
NM_001098670.2:c.1480dup	NP_001092140.1:p.Arg494ProfsTer?
NM_001318398.2:c.1045dup	NP_001305327.1:p.Arg349ProfsTer?