Canonical Allele Identifier: CA341793

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 21247
• ClinVar RCV Id: RCV000020409 ; RCV000593748 ; RCV001826485
• dbSNP Id: rs80359852
• ExAC: 8:27634576 GA / G
• gnomAD v2: 8-27634576-GA-G
• gnomAD v3: 8-27777059-GA-G
• gnomAD v4: 8-27777059-GA-G
• COSMIC: COSM1456419
• MyVariant Identifiers: chr8:g.27634585del (hg19) ; chr8:g.27634577del (hg19) ; chr8:g.27777068del (hg38) ; chr8:g.27777060del (hg38)
• PubMed: PMID:16380922 ; PMID:18411254 ; PMID:20301332

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27777068del , CM000670.2:g.27777068del	GRCh38
NC_000008.10:g.27634585del , CM000670.1:g.27634585del	GRCh37
NC_000008.9:g.27690504del	NCBI36
NG_008117.1:g.7528del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.760del MANE Select	ENSP00000306999.8:p.Thr254LeufsTer13
ENST00000305188.12:c.760del	ENSP00000306999.8:p.Thr254LeufsTer13
ENST00000522378.5:c.760del	ENSP00000428928.1:p.Thr254LeufsTer13
ENST00000523910.1:n.559del
ENST00000524293.1:n.778del
NM_001017420.2:c.760del	NP_001017420.1:p.Thr254LeufsTer13
XM_011544421.1:c.760del	XP_011542723.1:p.Thr254LeufsTer13
XM_011544422.1:c.760del	XP_011542724.1:p.Thr254LeufsTer13
XR_949378.1:n.844del
XR_949379.1:n.844del
XM_011544421.2:c.760del	XP_011542723.1:p.Thr254LeufsTer13
XM_011544422.2:c.760del	XP_011542724.1:p.Thr254LeufsTer13
XR_949378.3:n.844del
NM_001017420.3:c.760del MANE Select	NP_001017420.1:p.Thr254LeufsTer13