Canonical Allele Identifier: CA10625319

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362768
• ClinVar RCV Id: RCV000389773
• dbSNP Id: rs374900624
• gnomAD v2: 8-27661456-CTG-C
• gnomAD v3: 8-27803939-CTG-C
• gnomAD v4: 8-27803939-CTG-C
• MyVariant Identifiers: chr8:g.27661460_27661461del (hg19) ; chr8:g.27661457_27661458del (hg19) ; chr8:g.27803943_27803944del (hg38) ; chr8:g.27803940_27803941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803943_27803944del , CM000670.2:g.27803943_27803944del	GRCh38
NC_000008.10:g.27661460_27661461del , CM000670.1:g.27661460_27661461del	GRCh37
NC_000008.9:g.27717379_27717380del	NCBI36
NG_008117.1:g.34403_34404del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*505_*506del MANE Select	ENSP00000306999.8:n.*505_*506del
ENST00000305188.12:c.*505_*506del	ENSP00000306999.8:n.*505_*506del
ENST00000397418.4:c.685+570_685+571del	ENSP00000380563.2:n.685+570_685+571del
ENST00000522378.5:c.*716+570_*716+571del	ENSP00000428928.1:n.*716+570_*716+571del
NM_001017420.2:c.*505_*506del	NP_001017420.1:n.*505_*506del
XM_011544421.1:c.*505_*506del	XP_011542723.1:n.*505_*506del
XM_011544422.1:c.1741+570_1741+571del	XP_011542724.1:n.1741+570_1741+571del
XR_949378.1:n.1825+570_1825+571del
XR_949379.1:n.1825+570_1825+571del
XM_011544421.2:c.*505_*506del	XP_011542723.1:n.*505_*506del
XM_011544422.2:c.1741+570_1741+571del	XP_011542724.1:n.1741+570_1741+571del
XR_949378.3:n.1825+570_1825+571del
NM_001017420.3:c.*505_*506del MANE Select	NP_001017420.1:n.*505_*506del