Canonical Allele Identifier: CA148813734
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs560871735
gnomAD v2: 6-139693997-AAC-A
gnomAD v3: 6-139372860-AAC-A
gnomAD v4: 6-139372860-AAC-A
MyVariant Identifiers: chr6:g.139693998_139693999del (hg19) chr6:g.139372861_139372862del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372862_139372863del , CM000668.2:g.139372862_139372863del GRCh38
NC_000006.11:g.139693999_139694000del , CM000668.1:g.139693999_139694000del GRCh37
NC_000006.10:g.139735692_139735693del NCBI36
NG_016169.1:g.6787_6788del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*270_*271del MANE Select ENSP00000356623.2:n.*270_*271del
ENST00000367651.3:c.*270_*271del ENSP00000356623.2:n.*270_*271del
ENST00000536159.2:c.*270_*271del ENSP00000442831.1:n.*270_*271del
ENST00000537332.2:c.*270_*271del ENSP00000444198.2:n.*270_*271del
NM_001168388.2:c.*270_*271del NP_001161860.1:n.*270_*271del
NM_001168389.2:c.*270_*271del NP_001161861.2:n.*270_*271del
NM_006079.4:c.*270_*271del NP_006070.2:n.*270_*271del
NM_006079.5:c.*270_*271del MANE Select NP_006070.2:n.*270_*271del
NM_001168388.3:c.*270_*271del NP_001161860.1:n.*270_*271del
NM_001168389.3:c.*270_*271del NP_001161861.2:n.*270_*271del
Search 100 bp 5'
Search 100 bp 3'