Canonical Allele Identifier: CA4025578
Gene: CITED2 HGNC NCBI

Linked Data

ClinVar Variation Id: 668342
ClinVar RCV Id: RCV000827195
dbSNP Id: rs563655306
ExAC: 6:139694508 T / C
gnomAD v2: 6-139694508-T-C
gnomAD v3: 6-139373371-T-C
gnomAD v4: 6-139373371-T-C
MyVariant Identifiers: chr6:g.139694508T>C (hg19) chr6:g.139373371T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373371T>C , CM000668.2:g.139373371T>C GRCh38
NC_000006.11:g.139694508T>C , CM000668.1:g.139694508T>C GRCh37
NC_000006.10:g.139736201T>C NCBI36
NG_016169.1:g.6278A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.574A>G MANE Select ENSP00000356623.2:p.Ser192Gly
ENST00000367651.3:c.574A>G ENSP00000356623.2:p.Ser192Gly
ENST00000536159.2:c.574A>G ENSP00000442831.1:p.Ser192Gly
ENST00000537332.2:c.589A>G ENSP00000444198.2:p.Ser197Gly
ENST00000618718.1:c.477-74A>G ENSP00000479918.1:n.477-74A>G
NM_001168388.2:c.574A>G NP_001161860.1:p.Ser192Gly
NM_001168389.2:c.589A>G NP_001161861.2:p.Ser197Gly
NM_006079.4:c.574A>G NP_006070.2:p.Ser192Gly
NM_006079.5:c.574A>G MANE Select NP_006070.2:p.Ser192Gly
NM_001168388.3:c.574A>G NP_001161860.1:p.Ser192Gly
NM_001168389.3:c.589A>G NP_001161861.2:p.Ser197Gly
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