Canonical Allele Identifier: CA2499221641

Gene: ARID2

Linked Data

• ClinVar Variation Id: 1285520
• ClinVar RCV Id: RCV001706877
• dbSNP Id: rs2138180455

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.45852663_45852664delinsGAA , CM000674.2:g.45852663_45852664delinsGAA	GRCh38
NC_000012.11:g.46246446_46246447delinsGAA , CM000674.1:g.46246446_46246447delinsGAA	GRCh37
NC_000012.10:g.44532713_44532714delinsGAA	NCBI36
NG_052800.1:g.127999_128000delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422737.7:c.4540_4541delinsGAA	ENSP00000415650.3:p.Thr1514GlufsTer10
ENST00000457135.2:c.749_750delinsGAA
ENST00000334344.11:c.4540_4541delinsGAA MANE Select	ENSP00000335044.6:p.Thr1514GlufsTer10
ENST00000422737.6:c.4461_4462delinsGAA
ENST00000334344.10:c.4540_4541delinsGAA	ENSP00000335044.6:p.Thr1514GlufsTer10
ENST00000422737.5:c.4093_4094delinsGAA	ENSP00000415650.1:p.Thr1365GlufsTer10
ENST00000444670.5:c.3370_3371delinsGAA	ENSP00000397307.1:p.Thr1124GlufsTer10
ENST00000457135.1:c.364_365delinsGAA	ENSP00000388357.1:p.Thr122GlufsTer10
ENST00000479608.5:n.3831_3832delinsGAA
NM_152641.2:c.4540_4541delinsGAA	NP_689854.2:p.Thr1514GlufsTer10
XM_006719272.2:c.4540_4541delinsGAA	XP_006719335.1:p.Thr1514GlufsTer10
XM_011538025.1:c.2908_2909delinsGAA	XP_011536327.1:p.Thr970GlufsTer10
XR_944505.1:n.4688_4689delinsGAA
NM_001347839.1:c.4540_4541delinsGAA	NP_001334768.1:p.Thr1514GlufsTer10
NM_152641.3:c.4540_4541delinsGAA	NP_689854.2:p.Thr1514GlufsTer10
XM_006719272.4:c.4540_4541delinsGAA	XP_006719335.1:p.Thr1514GlufsTer10
XR_944505.3:n.4671_4672delinsGAA
NM_152641.4:c.4540_4541delinsGAA MANE Select	NP_689854.2:p.Thr1514GlufsTer10
NM_001347839.2:c.4540_4541delinsGAA	NP_001334768.1:p.Thr1514GlufsTer10