Canonical Allele Identifier: CA4025580

Gene: CITED2

Linked Data

• ExAC: 6:139694510 TTGCTGCTGCCCGCGCCGCCGCCCGAGCTGCTGCCAGAGCCGCCGGGGGTGC / T
• MyVariant Identifiers: chr6:g.139694511_139694561del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373380_139373430del , CM000668.2:g.139373380_139373430del	GRCh38
NC_000006.11:g.139694517_139694567del , CM000668.1:g.139694517_139694567del	GRCh37
NC_000006.10:g.139736210_139736260del	NCBI36
NG_016169.1:g.6225_6275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.521_571del MANE Select	ENSP00000356623.2:p.Ser174_Ser190del
ENST00000367651.3:c.521_571del	ENSP00000356623.2:p.Ser174_Ser190del
ENST00000536159.2:c.521_571del	ENSP00000442831.1:p.Ser174_Ser190del
ENST00000537332.2:c.536_586del	ENSP00000444198.2:p.Ser179_Ser195del
ENST00000618718.1:c.476+45_477-77del	ENSP00000479918.1:n.476+45_477-77del
NM_001168388.2:c.521_571del	NP_001161860.1:p.Ser174_Ser190del
NM_001168389.2:c.536_586del	NP_001161861.2:p.Ser179_Ser195del
NM_006079.4:c.521_571del	NP_006070.2:p.Ser174_Ser190del
NM_006079.5:c.521_571del MANE Select	NP_006070.2:p.Ser174_Ser190del
NM_001168388.3:c.521_571del	NP_001161860.1:p.Ser174_Ser190del
NM_001168389.3:c.536_586del	NP_001161861.2:p.Ser179_Ser195del