Canonical Allele Identifier: CA4025572
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs760042914
ExAC: 6:139694498 C / G
gnomAD v2: 6-139694498-C-G
MyVariant Identifiers: chr6:g.139694498C>G (hg19) chr6:g.139694498_139694522delinsGCGCCGCCGCTGTTGCTGCTGCCCG (hg19) chr6:g.139373361C>G (hg38) chr6:g.139373361_139373385delinsGCGCCGCCGCTGTTGCTGCTGCCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373361C>G , CM000668.2:g.139373361C>G GRCh38
NC_000006.11:g.139694498C>G , CM000668.1:g.139694498C>G GRCh37
NC_000006.10:g.139736191C>G NCBI36
NG_016169.1:g.6288G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.584G>C MANE Select ENSP00000356623.2:p.Gly195Ala
ENST00000367651.3:c.584G>C ENSP00000356623.2:p.Gly195Ala
ENST00000536159.2:c.584G>C ENSP00000442831.1:p.Gly195Ala
ENST00000537332.2:c.599G>C ENSP00000444198.2:p.Gly200Ala
ENST00000618718.1:c.477-64G>C ENSP00000479918.1:n.477-64G>C
NM_001168388.2:c.584G>C NP_001161860.1:p.Gly195Ala
NM_001168389.2:c.599G>C NP_001161861.2:p.Gly200Ala
NM_006079.4:c.584G>C NP_006070.2:p.Gly195Ala
NM_006079.5:c.584G>C MANE Select NP_006070.2:p.Gly195Ala
NM_001168388.3:c.584G>C NP_001161860.1:p.Gly195Ala
NM_001168389.3:c.599G>C NP_001161861.2:p.Gly200Ala
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