Canonical Allele Identifier: CA2680562483

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373003-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373003T>C , CM000668.2:g.139373003T>C	GRCh38
NC_000006.11:g.139694140T>C , CM000668.1:g.139694140T>C	GRCh37
NC_000006.10:g.139735833T>C	NCBI36
NG_016169.1:g.6646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*129A>G MANE Select	ENSP00000356623.2:n.*129A>G
ENST00000367651.3:c.*129A>G	ENSP00000356623.2:n.*129A>G
ENST00000536159.2:c.*129A>G	ENSP00000442831.1:n.*129A>G
ENST00000537332.2:c.*129A>G	ENSP00000444198.2:n.*129A>G
NM_001168388.2:c.*129A>G	NP_001161860.1:n.*129A>G
NM_001168389.2:c.*129A>G	NP_001161861.2:n.*129A>G
NM_006079.4:c.*129A>G	NP_006070.2:n.*129A>G
NM_006079.5:c.*129A>G MANE Select	NP_006070.2:n.*129A>G
NM_001168388.3:c.*129A>G	NP_001161860.1:n.*129A>G
NM_001168389.3:c.*129A>G	NP_001161861.2:n.*129A>G