Canonical Allele Identifier: CA341795
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21250
ClinVar RCV Id: RCV000020412 RCV001851968
dbSNP Id: rs80359856
gnomAD v2: 8-27637702-TGACA-T
gnomAD v3: 8-27780185-TGACA-T
gnomAD v4: 8-27780185-TGACA-T
MyVariant Identifiers: chr8:g.27637704_27637707del (hg19) chr8:g.27637703_27637706del (hg19) chr8:g.27780187_27780190del (hg38) chr8:g.27780186_27780189del (hg38)
PubMed: PMID:18411254 PMID:20301332
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27780188_27780191del , CM000670.2:g.27780188_27780191del GRCh38
NC_000008.10:g.27637705_27637708del , CM000670.1:g.27637705_27637708del GRCh37
NC_000008.9:g.27693624_27693627del NCBI36
NG_008117.1:g.10648_10651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.876_879del MANE Select ENSP00000306999.8:p.Asp292GlufsTer?
ENST00000305188.12:c.876_879del ENSP00000306999.8:p.Asp292GlufsTer?
ENST00000522378.5:c.861+3019_861+3022del ENSP00000428928.1:n.861+3019_861+3022del
ENST00000523910.1:n.675_678del
NM_001017420.2:c.876_879del NP_001017420.1:p.Asp292GlufsTer?
XM_011544421.1:c.876_879del XP_011542723.1:p.Asp292GlufsTer?
XM_011544422.1:c.876_879del XP_011542724.1:p.Asp292GlufsTer?
XR_949378.1:n.960_963del
XR_949379.1:n.960_963del
XM_011544421.2:c.876_879del XP_011542723.1:p.Asp292GlufsTer?
XM_011544422.2:c.876_879del XP_011542724.1:p.Asp292GlufsTer?
XR_949378.3:n.960_963del
NM_001017420.3:c.876_879del MANE Select NP_001017420.1:p.Asp292GlufsTer?
Search 100 bp 5'
Search 100 bp 3'