Canonical Allele Identifier: CA2680562547

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373343-A-ATGTTGCCGCTGCCGCTGCCGCCGCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373350_139373376dup , CM000668.2:g.139373350_139373376dup	GRCh38
NC_000006.11:g.139694487_139694513dup , CM000668.1:g.139694487_139694513dup	GRCh37
NC_000006.10:g.139736180_139736206dup	NCBI36
NG_016169.1:g.6279_6305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.575_601dup MANE Select	ENSP00000356623.2:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyA...
ENST00000367651.3:c.575_601dup	ENSP00000356623.2:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyA...
ENST00000536159.2:c.575_601dup	ENSP00000442831.1:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyA...
ENST00000537332.2:c.590_616dup	ENSP00000444198.2:p.Asn205_Met206insSerGlyGlyGlySerGlySerGlyA...
ENST00000618718.1:c.477-73_477-47dup	ENSP00000479918.1:n.477-73_477-47dup
NM_001168388.2:c.575_601dup	NP_001161860.1:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyAsn
NM_001168389.2:c.590_616dup	NP_001161861.2:p.Asn205_Met206insSerGlyGlyGlySerGlySerGlyAsn
NM_006079.4:c.575_601dup	NP_006070.2:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyAsn
NM_006079.5:c.575_601dup MANE Select	NP_006070.2:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyAsn
NM_001168388.3:c.575_601dup	NP_001161860.1:p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyAsn
NM_001168389.3:c.590_616dup	NP_001161861.2:p.Asn205_Met206insSerGlyGlyGlySerGlySerGlyAsn