Canonical Allele Identifier: CA365876647

Gene: CITED2

Linked Data

• dbSNP Id: rs1554233653
• gnomAD v2: 6-139694487-C-A
• gnomAD v4: 6-139373350-C-A
• MyVariant Identifiers: chr6:g.139694487C>A (hg19) ; chr6:g.139694487_139694508delinsAGCTGCCGCTGCCGCCGCCGCT (hg19) ; chr6:g.139373350C>A (hg38) ; chr6:g.139373350_139373371delinsAGCTGCCGCTGCCGCCGCCGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373350C>A , CM000668.2:g.139373350C>A	GRCh38
NC_000006.11:g.139694487C>A , CM000668.1:g.139694487C>A	GRCh37
NC_000006.10:g.139736180C>A	NCBI36
NG_016169.1:g.6299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.595G>T MANE Select	ENSP00000356623.2:p.Gly199Cys
ENST00000367651.3:c.595G>T	ENSP00000356623.2:p.Gly199Cys
ENST00000536159.2:c.595G>T	ENSP00000442831.1:p.Gly199Cys
ENST00000537332.2:c.610G>T	ENSP00000444198.2:p.Gly204Cys
ENST00000618718.1:c.477-53G>T	ENSP00000479918.1:n.477-53G>T
NM_001168388.2:c.595G>T	NP_001161860.1:p.Gly199Cys
NM_001168389.2:c.610G>T	NP_001161861.2:p.Gly204Cys
NM_006079.4:c.595G>T	NP_006070.2:p.Gly199Cys
NM_006079.5:c.595G>T MANE Select	NP_006070.2:p.Gly199Cys
NM_001168388.3:c.595G>T	NP_001161860.1:p.Gly199Cys
NM_001168389.3:c.610G>T	NP_001161861.2:p.Gly204Cys