Canonical Allele Identifier: CA10627600
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 362752
ClinVar RCV Id: RCV000280785 RCV001712554
dbSNP Id: rs56062620
gnomAD v2: 8-27661066-T-TACACAC
gnomAD v3: 8-27803549-T-TACACAC
gnomAD v4: 8-27803549-T-TACACAC
MyVariant Identifiers: chr8:g.27661079_27661084dupACACAC (hg19) chr8:g.27661068_27661069insACACAC (hg19) chr8:g.27661066_27661067insACACAC (hg19) chr8:g.27803562_27803567dupACACAC (hg38) chr8:g.27803549_27803550insACACAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27803562_27803567dup , CM000670.2:g.27803562_27803567dup GRCh38
NC_000008.10:g.27661079_27661084dup , CM000670.1:g.27661079_27661084dup GRCh37
NC_000008.9:g.27716998_27717003dup NCBI36
NG_008117.1:g.34022_34027dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.*124_*129dup MANE Select ENSP00000306999.8:n.*124_*129dup
ENST00000305188.12:c.*124_*129dup ENSP00000306999.8:n.*124_*129dup
ENST00000397418.4:c.685+189_685+194dup ENSP00000380563.2:n.685+189_685+194dup
ENST00000522378.5:c.*716+189_*716+194dup ENSP00000428928.1:n.*716+189_*716+194dup
NM_001017420.2:c.*124_*129dup NP_001017420.1:n.*124_*129dup
XM_011544421.1:c.*124_*129dup XP_011542723.1:n.*124_*129dup
XM_011544422.1:c.1741+189_1741+194dup XP_011542724.1:n.1741+189_1741+194dup
XR_949378.1:n.1825+189_1825+194dup
XR_949379.1:n.1825+189_1825+194dup
XM_011544421.2:c.*124_*129dup XP_011542723.1:n.*124_*129dup
XM_011544422.2:c.1741+189_1741+194dup XP_011542724.1:n.1741+189_1741+194dup
XR_949378.3:n.1825+189_1825+194dup
NM_001017420.3:c.*124_*129dup MANE Select NP_001017420.1:n.*124_*129dup
Search 100 bp 5'
Search 100 bp 3'