Canonical Allele Identifier: CA570979109

Gene: CITED2

Linked Data

• dbSNP Id: rs1562314470
• gnomAD v2: 6-139694572-CGAGCCGCCGGGGGTGCTGCTGCCGCCG-C
• MyVariant Identifiers: chr6:g.139694573_139694599del (hg19) ; chr6:g.139373436_139373462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373436_139373462del , CM000668.2:g.139373436_139373462del	GRCh38
NC_000006.11:g.139694573_139694599del , CM000668.1:g.139694573_139694599del	GRCh37
NC_000006.10:g.139736266_139736292del	NCBI36
NG_016169.1:g.6187_6213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.483_509del MANE Select	ENSP00000356623.2:p.Ser161_Ser170delinsArg
ENST00000367651.3:c.483_509del	ENSP00000356623.2:p.Ser161_Ser170delinsArg
ENST00000536159.2:c.483_509del	ENSP00000442831.1:p.Ser161_Ser170delinsArg
ENST00000537332.2:c.498_524del	ENSP00000444198.2:p.Ser166_Ser175delinsArg
ENST00000618718.1:c.476+7_476+33del	ENSP00000479918.1:n.476+7_476+33del
NM_001168388.2:c.483_509del	NP_001161860.1:p.Ser161_Ser170delinsArg
NM_001168389.2:c.498_524del	NP_001161861.2:p.Ser166_Ser175delinsArg
NM_006079.4:c.483_509del	NP_006070.2:p.Ser161_Ser170delinsArg
NM_006079.5:c.483_509del MANE Select	NP_006070.2:p.Ser161_Ser170delinsArg
NM_001168388.3:c.483_509del	NP_001161860.1:p.Ser161_Ser170delinsArg
NM_001168389.3:c.498_524del	NP_001161861.2:p.Ser166_Ser175delinsArg