Canonical Allele Identifier: CA1095070376

Gene: CITED2

Linked Data

• dbSNP Id: rs1778272752
• gnomAD v3: 6-139372722-ATTT-A
• gnomAD v4: 6-139372722-ATTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372725_139372727del , CM000668.2:g.139372725_139372727del	GRCh38
NC_000006.11:g.139693862_139693864del , CM000668.1:g.139693862_139693864del	GRCh37
NC_000006.10:g.139735555_139735557del	NCBI36
NG_016169.1:g.6924_6926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*407_*409del MANE Select	ENSP00000356623.2:n.*407_*409del
ENST00000367651.3:c.*407_*409del	ENSP00000356623.2:n.*407_*409del
ENST00000536159.2:c.*407_*409del	ENSP00000442831.1:n.*407_*409del
ENST00000537332.2:c.*407_*409del	ENSP00000444198.2:n.*407_*409del
NM_001168388.2:c.*407_*409del	NP_001161860.1:n.*407_*409del
NM_001168389.2:c.*407_*409del	NP_001161861.2:n.*407_*409del
NM_006079.4:c.*407_*409del	NP_006070.2:n.*407_*409del
NM_006079.5:c.*407_*409del MANE Select	NP_006070.2:n.*407_*409del
NM_001168388.3:c.*407_*409del	NP_001161860.1:n.*407_*409del
NM_001168389.3:c.*407_*409del	NP_001161861.2:n.*407_*409del