Canonical Allele Identifier: CA452441216

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373219-C-T
• MyVariant Identifiers: chr6:g.139694356C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373219C>T , CM000668.2:g.139373219C>T	GRCh38
NC_000006.11:g.139694356C>T , CM000668.1:g.139694356C>T	GRCh37
NC_000006.10:g.139736049C>T	NCBI36
NG_016169.1:g.6430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.726G>A MANE Select	ENSP00000356623.2:p.Glu242=
ENST00000367651.3:c.726G>A	ENSP00000356623.2:p.Glu242=
ENST00000536159.2:c.726G>A	ENSP00000442831.1:p.Glu242=
ENST00000537332.2:c.741G>A	ENSP00000444198.2:p.Glu247=
ENST00000618718.1:c.555G>A	ENSP00000479918.1:p.Glu185=
NM_001168388.2:c.726G>A	NP_001161860.1:p.Glu242=
NM_001168389.2:c.741G>A	NP_001161861.2:p.Glu247=
NM_006079.4:c.726G>A	NP_006070.2:p.Glu242=
NM_006079.5:c.726G>A MANE Select	NP_006070.2:p.Glu242=
NM_001168388.3:c.726G>A	NP_001161860.1:p.Glu242=
NM_001168389.3:c.741G>A	NP_001161861.2:p.Glu247=