Canonical Allele Identifier: CA2695198363

Gene: CITED2

Linked Data

• ClinVar Variation Id: 2635092
• ClinVar RCV Id: RCV003402756

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373401_139373439dup , CM000668.2:g.139373401_139373439dup	GRCh38
NC_000006.11:g.139694538_139694576dup , CM000668.1:g.139694538_139694576dup	GRCh37
NC_000006.10:g.139736231_139736269dup	NCBI36
NG_016169.1:g.6221_6259dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.517_555dup MANE Select	ENSP00000356623.2:p.Gly185_Gly186insSerSerThrProGlyGlySerGlyS...
ENST00000367651.3:c.517_555dup	ENSP00000356623.2:p.Gly185_Gly186insSerSerThrProGlyGlySerGlyS...
ENST00000536159.2:c.517_555dup	ENSP00000442831.1:p.Gly185_Gly186insSerSerThrProGlyGlySerGlyS...
ENST00000537332.2:c.532_570dup	ENSP00000444198.2:p.Gly190_Gly191insSerSerThrProGlyGlySerGlyS...
ENST00000618718.1:c.476+41_476+79dup	ENSP00000479918.1:n.476+41_476+79dup
NM_001168388.2:c.517_555dup	NP_001161860.1:p.Gly185_Gly186insSerSerThrProGlyGlySerGlySerS...
NM_001168389.2:c.532_570dup	NP_001161861.2:p.Gly190_Gly191insSerSerThrProGlyGlySerGlySerS...
NM_006079.4:c.517_555dup	NP_006070.2:p.Gly185_Gly186insSerSerThrProGlyGlySerGlySerSerS...
NM_006079.5:c.517_555dup MANE Select	NP_006070.2:p.Gly185_Gly186insSerSerThrProGlyGlySerGlySerSerS...
NM_001168388.3:c.517_555dup	NP_001161860.1:p.Gly185_Gly186insSerSerThrProGlyGlySerGlySerS...
NM_001168389.3:c.532_570dup	NP_001161861.2:p.Gly190_Gly191insSerSerThrProGlyGlySerGlySerS...