Canonical Allele Identifier: CA819731299
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs1254802696
gnomAD v3: 6-139372768-A-AC
gnomAD v4: 6-139372768-A-AC
MyVariant Identifiers: chr6:g.139693905_139693906insC (hg19) chr6:g.139372768_139372769insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372770dup , CM000668.2:g.139372770dup GRCh38
NC_000006.11:g.139693907dup , CM000668.1:g.139693907dup GRCh37
NC_000006.10:g.139735600dup NCBI36
NG_016169.1:g.6880dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*363dup MANE Select ENSP00000356623.2:n.*363dup
ENST00000367651.3:c.*363dup ENSP00000356623.2:n.*363dup
ENST00000536159.2:c.*363dup ENSP00000442831.1:n.*363dup
ENST00000537332.2:c.*363dup ENSP00000444198.2:n.*363dup
NM_001168388.2:c.*363dup NP_001161860.1:n.*363dup
NM_001168389.2:c.*363dup NP_001161861.2:n.*363dup
NM_006079.4:c.*363dup NP_006070.2:n.*363dup
NM_006079.5:c.*363dup MANE Select NP_006070.2:n.*363dup
NM_001168388.3:c.*363dup NP_001161860.1:n.*363dup
NM_001168389.3:c.*363dup NP_001161861.2:n.*363dup
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