Canonical Allele Identifier: CA2680562563

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373443-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373448dup , CM000668.2:g.139373448dup	GRCh38
NC_000006.11:g.139694585dup , CM000668.1:g.139694585dup	GRCh37
NC_000006.10:g.139736278dup	NCBI36
NG_016169.1:g.6205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.501dup MANE Select	ENSP00000356623.2:p.Gly168ArgfsTer?
ENST00000367651.3:c.501dup	ENSP00000356623.2:p.Gly168ArgfsTer?
ENST00000536159.2:c.501dup	ENSP00000442831.1:p.Gly168ArgfsTer?
ENST00000537332.2:c.516dup	ENSP00000444198.2:p.Gly173ArgfsTer?
ENST00000618718.1:c.476+25dup	ENSP00000479918.1:n.476+25dup
NM_001168388.2:c.501dup	NP_001161860.1:p.Gly168ArgfsTer?
NM_001168389.2:c.516dup	NP_001161861.2:p.Gly173ArgfsTer?
NM_006079.4:c.501dup	NP_006070.2:p.Gly168ArgfsTer?
NM_006079.5:c.501dup MANE Select	NP_006070.2:p.Gly168ArgfsTer?
NM_001168388.3:c.501dup	NP_001161860.1:p.Gly168ArgfsTer?
NM_001168389.3:c.516dup	NP_001161861.2:p.Gly173ArgfsTer?