Canonical Allele Identifier: CA1667372356

Gene: CITED2

Linked Data

• dbSNP Id: rs1778294705
• gnomAD v4: 6-139373370-C-CCGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373370_139373371insCGA , CM000668.2:g.139373370_139373371insCGA	GRCh38
NC_000006.11:g.139694507_139694508insCGA , CM000668.1:g.139694507_139694508insCGA	GRCh37
NC_000006.10:g.139736200_139736201insCGA	NCBI36
NG_016169.1:g.6278_6279insTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.574_575insTCG MANE Select	ENSP00000356623.2:p.Ser192delinsIleGly
ENST00000367651.3:c.574_575insTCG	ENSP00000356623.2:p.Ser192delinsIleGly
ENST00000536159.2:c.574_575insTCG	ENSP00000442831.1:p.Ser192delinsIleGly
ENST00000537332.2:c.589_590insTCG	ENSP00000444198.2:p.Ser197delinsIleGly
ENST00000618718.1:c.477-74_477-73insTCG	ENSP00000479918.1:n.477-74_477-73insTCG
NM_001168388.2:c.574_575insTCG	NP_001161860.1:p.Ser192delinsIleGly
NM_001168389.2:c.589_590insTCG	NP_001161861.2:p.Ser197delinsIleGly
NM_006079.4:c.574_575insTCG	NP_006070.2:p.Ser192delinsIleGly
NM_006079.5:c.574_575insTCG MANE Select	NP_006070.2:p.Ser192delinsIleGly
NM_001168388.3:c.574_575insTCG	NP_001161860.1:p.Ser192delinsIleGly
NM_001168389.3:c.589_590insTCG	NP_001161861.2:p.Ser197delinsIleGly