Canonical Allele Identifier: CA2686704264

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27777065_27777068del , CM000670.2:g.27777065_27777068del	GRCh38
NC_000008.10:g.27634582_27634585del , CM000670.1:g.27634582_27634585del	GRCh37
NC_000008.9:g.27690501_27690504del	NCBI36
NG_008117.1:g.7525_7528del

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.757_760del MANE Select	NP_001017420.1:p.Lys253LeufsTer13
ENST00000305188.13:c.757_760del MANE Select	ENSP00000306999.8:p.Lys253LeufsTer13
NM_001017420.2:c.757_760del	NP_001017420.1:p.Lys253LeufsTer13
ENST00000305188.12:c.757_760del	ENSP00000306999.8:p.Lys253LeufsTer13
ENST00000522378.5:c.757_760del	ENSP00000428928.1:p.Lys253LeufsTer13
ENST00000523910.1:n.556_559del
ENST00000524293.1:n.775_778del
XM_011544421.1:c.757_760del	XP_011542723.1:p.Lys253LeufsTer13
XM_011544421.2:c.757_760del	XP_011542723.1:p.Lys253LeufsTer13
XM_011544422.1:c.757_760del	XP_011542724.1:p.Lys253LeufsTer13
XM_011544422.2:c.757_760del	XP_011542724.1:p.Lys253LeufsTer13
XR_949378.1:n.841_844del
XR_949378.3:n.841_844del
XR_949379.1:n.841_844del