Canonical Allele Identifier: CA339907

Gene: ESCO2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.760dup MANE Select	ENSP00000306999.8:p.Thr254AsnfsTer27
ENST00000305188.12:c.760dup	ENSP00000306999.8:p.Thr254AsnfsTer27
ENST00000522378.5:c.760dup	ENSP00000428928.1:p.Thr254AsnfsTer27
ENST00000523910.1:n.559dup
ENST00000524293.1:n.778dup
NM_001017420.2:c.760dup	NP_001017420.1:p.Thr254AsnfsTer27
XM_011544421.1:c.760dup	XP_011542723.1:p.Thr254AsnfsTer27
XM_011544422.1:c.760dup	XP_011542724.1:p.Thr254AsnfsTer27
XR_949378.1:n.844dup
XR_949379.1:n.844dup
XM_011544421.2:c.760dup	XP_011542723.1:p.Thr254AsnfsTer27
XM_011544422.2:c.760dup	XP_011542724.1:p.Thr254AsnfsTer27
XR_949378.3:n.844dup
NM_001017420.3:c.760dup MANE Select	NP_001017420.1:p.Thr254AsnfsTer27