Canonical Allele Identifier: CA2680562486

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373005-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373005_139373006insAA , CM000668.2:g.139373005_139373006insAA	GRCh38
NC_000006.11:g.139694142_139694143insAA , CM000668.1:g.139694142_139694143insAA	GRCh37
NC_000006.10:g.139735835_139735836insAA	NCBI36
NG_016169.1:g.6643_6644insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*126_*127insTT MANE Select	ENSP00000356623.2:n.*126_*127insTT
ENST00000367651.3:c.*126_*127insTT	ENSP00000356623.2:n.*126_*127insTT
ENST00000536159.2:c.*126_*127insTT	ENSP00000442831.1:n.*126_*127insTT
ENST00000537332.2:c.*126_*127insTT	ENSP00000444198.2:n.*126_*127insTT
NM_001168388.2:c.*126_*127insTT	NP_001161860.1:n.*126_*127insTT
NM_001168389.2:c.*126_*127insTT	NP_001161861.2:n.*126_*127insTT
NM_006079.4:c.*126_*127insTT	NP_006070.2:n.*126_*127insTT
NM_006079.5:c.*126_*127insTT MANE Select	NP_006070.2:n.*126_*127insTT
NM_001168388.3:c.*126_*127insTT	NP_001161860.1:n.*126_*127insTT
NM_001168389.3:c.*126_*127insTT	NP_001161861.2:n.*126_*127insTT