Canonical Allele Identifier: CA341796
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21251
ClinVar RCV Id: RCV000020413 RCV001208578 RCV001831589 RCV002482893
dbSNP Id: rs80359857
ExAC: 8:27637705 CAG / C
gnomAD v2: 8-27637705-CAG-C
gnomAD v3: 8-27780188-CAG-C
gnomAD v4: 8-27780188-CAG-C
MyVariant Identifiers: chr8:g.27637708_27637709del (hg19) chr8:g.27637706_27637707del (hg19) chr8:g.27780191_27780192del (hg38) chr8:g.27780189_27780190del (hg38)
PubMed: PMID:15821733 PMID:18186147 PMID:18411254 PMID:20301332
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27780191_27780192del , CM000670.2:g.27780191_27780192del GRCh38
NC_000008.10:g.27637708_27637709del , CM000670.1:g.27637708_27637709del GRCh37
NC_000008.9:g.27693627_27693628del NCBI36
NG_008117.1:g.10651_10652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.879_880del MANE Select ENSP00000306999.8:p.Arg293SerfsTer7
ENST00000305188.12:c.879_880del ENSP00000306999.8:p.Arg293SerfsTer7
ENST00000522378.5:c.861+3022_861+3023del ENSP00000428928.1:n.861+3022_861+3023del
ENST00000523910.1:n.678_679del
NM_001017420.2:c.879_880del NP_001017420.1:p.Arg293SerfsTer7
XM_011544421.1:c.879_880del XP_011542723.1:p.Arg293SerfsTer7
XM_011544422.1:c.879_880del XP_011542724.1:p.Arg293SerfsTer7
XR_949378.1:n.963_964del
XR_949379.1:n.963_964del
XM_011544421.2:c.879_880del XP_011542723.1:p.Arg293SerfsTer7
XM_011544422.2:c.879_880del XP_011542724.1:p.Arg293SerfsTer7
XR_949378.3:n.963_964del
NM_001017420.3:c.879_880del MANE Select NP_001017420.1:p.Arg293SerfsTer7
Search 100 bp 5'
Search 100 bp 3'