Canonical Allele Identifier: CA4025522

Gene: CITED2

Linked Data

• dbSNP Id: rs763411808
• ExAC: 6:139694305 G / T
• gnomAD v2: 6-139694305-G-T
• gnomAD v4: 6-139373168-G-T
• MyVariant Identifiers: chr6:g.139694305G>T (hg19) ; chr6:g.139373168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373168G>T , CM000668.2:g.139373168G>T	GRCh38
NC_000006.11:g.139694305G>T , CM000668.1:g.139694305G>T	GRCh37
NC_000006.10:g.139735998G>T	NCBI36
NG_016169.1:g.6481C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367651.4:c.777C>A MANE Select	ENSP00000356623.2:p.Phe259Leu
ENST00000367651.3:c.777C>A	ENSP00000356623.2:p.Phe259Leu
ENST00000536159.2:c.777C>A	ENSP00000442831.1:p.Phe259Leu
ENST00000537332.2:c.792C>A	ENSP00000444198.2:p.Phe264Leu
ENST00000618718.1:c.606C>A	ENSP00000479918.1:p.Phe202Leu
NM_001168388.2:c.777C>A	NP_001161860.1:p.Phe259Leu
NM_001168389.2:c.792C>A	NP_001161861.2:p.Phe264Leu
NM_006079.4:c.777C>A	NP_006070.2:p.Phe259Leu
NM_006079.5:c.777C>A MANE Select	NP_006070.2:p.Phe259Leu
NM_001168388.3:c.777C>A	NP_001161860.1:p.Phe259Leu
NM_001168389.3:c.792C>A	NP_001161861.2:p.Phe264Leu