Canonical Allele Identifier: CA2686704267

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27777073del , CM000670.2:g.27777073del	GRCh38
NC_000008.10:g.27634590del , CM000670.1:g.27634590del	GRCh37
NC_000008.9:g.27690509del	NCBI36
NG_008117.1:g.7533del

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.765del MANE Select	NP_001017420.1:p.Phe255LeufsTer12
ENST00000305188.13:c.765del MANE Select	ENSP00000306999.8:p.Phe255LeufsTer12
NM_001017420.2:c.765del	NP_001017420.1:p.Phe255LeufsTer12
ENST00000305188.12:c.765del	ENSP00000306999.8:p.Phe255LeufsTer12
ENST00000522378.5:c.765del	ENSP00000428928.1:p.Phe255LeufsTer12
ENST00000523910.1:n.564del
ENST00000524293.1:n.783del
XM_011544421.1:c.765del	XP_011542723.1:p.Phe255LeufsTer12
XM_011544421.2:c.765del	XP_011542723.1:p.Phe255LeufsTer12
XM_011544422.1:c.765del	XP_011542724.1:p.Phe255LeufsTer12
XM_011544422.2:c.765del	XP_011542724.1:p.Phe255LeufsTer12
XR_949378.1:n.849del
XR_949378.3:n.849del
XR_949379.1:n.849del