Canonical Allele Identifier: CA341790

Gene: ESCO2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776616_27776617del , CM000670.2:g.27776616_27776617del	GRCh38
NC_000008.10:g.27634133_27634134del , CM000670.1:g.27634133_27634134del	GRCh37
NC_000008.9:g.27690052_27690053del	NCBI36
NG_008117.1:g.7076_7077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.308_309del MANE Select	ENSP00000306999.8:p.Lys103ArgfsTer3
ENST00000305188.12:c.308_309del	ENSP00000306999.8:p.Lys103ArgfsTer3
ENST00000519637.1:c.308_309del	ENSP00000428027.1:p.Lys103ArgfsTer3
ENST00000522378.5:c.308_309del	ENSP00000428928.1:p.Lys103ArgfsTer3
ENST00000523566.5:c.308_309del	ENSP00000428435.1:p.Lys103ArgfsTer3
ENST00000523910.1:n.107_108del
ENST00000524293.1:n.326_327del
NM_001017420.2:c.308_309del	NP_001017420.1:p.Lys103ArgfsTer3
XM_011544421.1:c.308_309del	XP_011542723.1:p.Lys103ArgfsTer3
XM_011544422.1:c.308_309del	XP_011542724.1:p.Lys103ArgfsTer3
XR_949378.1:n.392_393del
XR_949379.1:n.392_393del
XM_011544421.2:c.308_309del	XP_011542723.1:p.Lys103ArgfsTer3
XM_011544422.2:c.308_309del	XP_011542724.1:p.Lys103ArgfsTer3
XR_949378.3:n.392_393del
NM_001017420.3:c.308_309del MANE Select	NP_001017420.1:p.Lys103ArgfsTer3