Canonical Allele Identifier: CA2680562565

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373448-G-GTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373455_139373457dup , CM000668.2:g.139373455_139373457dup	GRCh38
NC_000006.11:g.139694592_139694594dup , CM000668.1:g.139694592_139694594dup	GRCh37
NC_000006.10:g.139736285_139736287dup	NCBI36
NG_016169.1:g.6198_6200dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.494_496dup MANE Select	ENSP00000356623.2:p.Ser165_Thr166insSer
ENST00000367651.3:c.494_496dup	ENSP00000356623.2:p.Ser165_Thr166insSer
ENST00000536159.2:c.494_496dup	ENSP00000442831.1:p.Ser165_Thr166insSer
ENST00000537332.2:c.509_511dup	ENSP00000444198.2:p.Ser170_Thr171insSer
ENST00000618718.1:c.476+18_476+20dup	ENSP00000479918.1:n.476+18_476+20dup
NM_001168388.2:c.494_496dup	NP_001161860.1:p.Ser165_Thr166insSer
NM_001168389.2:c.509_511dup	NP_001161861.2:p.Ser170_Thr171insSer
NM_006079.4:c.494_496dup	NP_006070.2:p.Ser165_Thr166insSer
NM_006079.5:c.494_496dup MANE Select	NP_006070.2:p.Ser165_Thr166insSer
NM_001168388.3:c.494_496dup	NP_001161860.1:p.Ser165_Thr166insSer
NM_001168389.3:c.509_511dup	NP_001161861.2:p.Ser170_Thr171insSer