Canonical Allele Identifier: CA341788

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 21242
• ClinVar RCV Id: RCV000020404 ; RCV001054606
• dbSNP Id: rs80359845
• ExAC: 8:27634116 GGAGA / G
• gnomAD v2: 8-27634116-GGAGA-G
• gnomAD v3: 8-27776599-GGAGA-G
• gnomAD v4: 8-27776599-GGAGA-G
• MyVariant Identifiers: chr8:g.27634119_27634122del (hg19) ; chr8:g.27634117_27634120del (hg19) ; chr8:g.27776602_27776605del (hg38) ; chr8:g.27776600_27776603del (hg38)
• PubMed: PMID:18411254 ; PMID:20301332

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776602_27776605del , CM000670.2:g.27776602_27776605del	GRCh38
NC_000008.10:g.27634119_27634122del , CM000670.1:g.27634119_27634122del	GRCh37
NC_000008.9:g.27690038_27690041del	NCBI36
NG_008117.1:g.7062_7065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.294_297del MANE Select	ENSP00000306999.8:p.Arg99SerfsTer2
ENST00000305188.12:c.294_297del	ENSP00000306999.8:p.Arg99SerfsTer2
ENST00000519637.1:c.294_297del	ENSP00000428027.1:p.Arg99SerfsTer2
ENST00000522378.5:c.294_297del	ENSP00000428928.1:p.Arg99SerfsTer2
ENST00000523566.5:c.294_297del	ENSP00000428435.1:p.Arg99SerfsTer2
ENST00000523910.1:n.93_96del
ENST00000524293.1:n.312_315del
NM_001017420.2:c.294_297del	NP_001017420.1:p.Arg99SerfsTer2
XM_011544421.1:c.294_297del	XP_011542723.1:p.Arg99SerfsTer2
XM_011544422.1:c.294_297del	XP_011542724.1:p.Arg99SerfsTer2
XR_949378.1:n.378_381del
XR_949379.1:n.378_381del
XM_011544421.2:c.294_297del	XP_011542723.1:p.Arg99SerfsTer2
XM_011544422.2:c.294_297del	XP_011542724.1:p.Arg99SerfsTer2
XR_949378.3:n.378_381del
NM_001017420.3:c.294_297del MANE Select	NP_001017420.1:p.Arg99SerfsTer2