Canonical Allele Identifier: CA2686706285

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27787969-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787970dup , CM000670.2:g.27787970dup	GRCh38
NC_000008.10:g.27645487dup , CM000670.1:g.27645487dup	GRCh37
NC_000008.9:g.27701406dup	NCBI36
NG_008117.1:g.18430dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1099dup MANE Select	ENSP00000306999.8:p.Thr367AsnfsTer3
ENST00000305188.12:c.1099dup	ENSP00000306999.8:p.Thr367AsnfsTer3
ENST00000397418.4:c.43dup	ENSP00000380563.2:p.Thr15AsnfsTer3
ENST00000518262.5:c.213dup
ENST00000522378.5:c.*74dup	ENSP00000428928.1:n.*74dup
NM_001017420.2:c.1099dup	NP_001017420.1:p.Thr367AsnfsTer3
XM_011544421.1:c.1099dup	XP_011542723.1:p.Thr367AsnfsTer3
XM_011544422.1:c.1099dup	XP_011542724.1:p.Thr367AsnfsTer3
XR_949378.1:n.1183dup
XR_949379.1:n.1183dup
XM_011544421.2:c.1099dup	XP_011542723.1:p.Thr367AsnfsTer3
XM_011544422.2:c.1099dup	XP_011542724.1:p.Thr367AsnfsTer3
XR_949378.3:n.1183dup
NM_001017420.3:c.1099dup MANE Select	NP_001017420.1:p.Thr367AsnfsTer3