Canonical Allele Identifier: CA819731465
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs1356307500
gnomAD v4: 6-139372946-CAG-C
MyVariant Identifiers: chr6:g.139694084_139694085del (hg19) chr6:g.139372947_139372948del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372947_139372948del , CM000668.2:g.139372947_139372948del GRCh38
NC_000006.11:g.139694084_139694085del , CM000668.1:g.139694084_139694085del GRCh37
NC_000006.10:g.139735777_139735778del NCBI36
NG_016169.1:g.6701_6702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*184_*185del MANE Select ENSP00000356623.2:n.*184_*185del
ENST00000367651.3:c.*184_*185del ENSP00000356623.2:n.*184_*185del
ENST00000536159.2:c.*184_*185del ENSP00000442831.1:n.*184_*185del
ENST00000537332.2:c.*184_*185del ENSP00000444198.2:n.*184_*185del
NM_001168388.2:c.*184_*185del NP_001161860.1:n.*184_*185del
NM_001168389.2:c.*184_*185del NP_001161861.2:n.*184_*185del
NM_006079.4:c.*184_*185del NP_006070.2:n.*184_*185del
NM_006079.5:c.*184_*185del MANE Select NP_006070.2:n.*184_*185del
NM_001168388.3:c.*184_*185del NP_001161860.1:n.*184_*185del
NM_001168389.3:c.*184_*185del NP_001161861.2:n.*184_*185del
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