Canonical Allele Identifier: CA1667372074

Gene: CITED2

Linked Data

• dbSNP Id: rs1006557187
• gnomAD v4: 6-139372886-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372886G>T , CM000668.2:g.139372886G>T	GRCh38
NC_000006.11:g.139694023G>T , CM000668.1:g.139694023G>T	GRCh37
NC_000006.10:g.139735716G>T	NCBI36
NG_016169.1:g.6763C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*246C>A MANE Select	ENSP00000356623.2:n.*246C>A
ENST00000367651.3:c.*246C>A	ENSP00000356623.2:n.*246C>A
ENST00000536159.2:c.*246C>A	ENSP00000442831.1:n.*246C>A
ENST00000537332.2:c.*246C>A	ENSP00000444198.2:n.*246C>A
NM_001168388.2:c.*246C>A	NP_001161860.1:n.*246C>A
NM_001168389.2:c.*246C>A	NP_001161861.2:n.*246C>A
NM_006079.4:c.*246C>A	NP_006070.2:n.*246C>A
NM_006079.5:c.*246C>A MANE Select	NP_006070.2:n.*246C>A
NM_001168388.3:c.*246C>A	NP_001161860.1:n.*246C>A
NM_001168389.3:c.*246C>A	NP_001161861.2:n.*246C>A