Canonical Allele Identifier: CA1095070543

Gene: CITED2

Linked Data

• dbSNP Id: rs1778282789
• gnomAD v3: 6-139373016-A-C
• gnomAD v4: 6-139373016-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373016A>C , CM000668.2:g.139373016A>C	GRCh38
NC_000006.11:g.139694153A>C , CM000668.1:g.139694153A>C	GRCh37
NC_000006.10:g.139735846A>C	NCBI36
NG_016169.1:g.6633T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*116T>G MANE Select	ENSP00000356623.2:n.*116T>G
ENST00000367651.3:c.*116T>G	ENSP00000356623.2:n.*116T>G
ENST00000536159.2:c.*116T>G	ENSP00000442831.1:n.*116T>G
ENST00000537332.2:c.*116T>G	ENSP00000444198.2:n.*116T>G
NM_001168388.2:c.*116T>G	NP_001161860.1:n.*116T>G
NM_001168389.2:c.*116T>G	NP_001161861.2:n.*116T>G
NM_006079.4:c.*116T>G	NP_006070.2:n.*116T>G
NM_006079.5:c.*116T>G MANE Select	NP_006070.2:n.*116T>G
NM_001168388.3:c.*116T>G	NP_001161860.1:n.*116T>G
NM_001168389.3:c.*116T>G	NP_001161861.2:n.*116T>G