Canonical Allele Identifier: CA1095070497

Gene: CITED2

Linked Data

• dbSNP Id: rs1778279365
• gnomAD v3: 6-139372945-A-C
• gnomAD v4: 6-139372945-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372945A>C , CM000668.2:g.139372945A>C	GRCh38
NC_000006.11:g.139694082A>C , CM000668.1:g.139694082A>C	GRCh37
NC_000006.10:g.139735775A>C	NCBI36
NG_016169.1:g.6704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*187T>G MANE Select	ENSP00000356623.2:n.*187T>G
ENST00000367651.3:c.*187T>G	ENSP00000356623.2:n.*187T>G
ENST00000536159.2:c.*187T>G	ENSP00000442831.1:n.*187T>G
ENST00000537332.2:c.*187T>G	ENSP00000444198.2:n.*187T>G
NM_001168388.2:c.*187T>G	NP_001161860.1:n.*187T>G
NM_001168389.2:c.*187T>G	NP_001161861.2:n.*187T>G
NM_006079.4:c.*187T>G	NP_006070.2:n.*187T>G
NM_006079.5:c.*187T>G MANE Select	NP_006070.2:n.*187T>G
NM_001168388.3:c.*187T>G	NP_001161860.1:n.*187T>G
NM_001168389.3:c.*187T>G	NP_001161861.2:n.*187T>G