Canonical Allele Identifier: CA4025558

Gene: CITED2

Linked Data

• dbSNP Id: rs749688747
• ExAC: 6:139694481 T / TGTTGCC
• gnomAD v2: 6-139694481-T-TGTTGCC
• gnomAD v3: 6-139373344-T-TGTTGCC
• gnomAD v4: 6-139373344-T-TGTTGCC
• MyVariant Identifiers: chr6:g.139694481_139694482insGTTGCC (hg19) ; chr6:g.139373344_139373345insGTTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373346_139373351dup , CM000668.2:g.139373346_139373351dup	GRCh38
NC_000006.11:g.139694483_139694488dup , CM000668.1:g.139694483_139694488dup	GRCh37
NC_000006.10:g.139736176_139736181dup	NCBI36
NG_016169.1:g.6299_6304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.595_600dup MANE Select	ENSP00000356623.2:p.Asn200_Met201insGlyAsn
ENST00000367651.3:c.595_600dup	ENSP00000356623.2:p.Asn200_Met201insGlyAsn
ENST00000536159.2:c.595_600dup	ENSP00000442831.1:p.Asn200_Met201insGlyAsn
ENST00000537332.2:c.610_615dup	ENSP00000444198.2:p.Asn205_Met206insGlyAsn
ENST00000618718.1:c.477-53_477-48dup	ENSP00000479918.1:n.477-53_477-48dup
NM_001168388.2:c.595_600dup	NP_001161860.1:p.Asn200_Met201insGlyAsn
NM_001168389.2:c.610_615dup	NP_001161861.2:p.Asn205_Met206insGlyAsn
NM_006079.4:c.595_600dup	NP_006070.2:p.Asn200_Met201insGlyAsn
NM_006079.5:c.595_600dup MANE Select	NP_006070.2:p.Asn200_Met201insGlyAsn
NM_001168388.3:c.595_600dup	NP_001161860.1:p.Asn200_Met201insGlyAsn
NM_001168389.3:c.610_615dup	NP_001161861.2:p.Asn205_Met206insGlyAsn