Canonical Allele Identifier: CA4025572

Gene: CITED2

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)

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