Canonical Allele Identifier: CA1139769812

Gene: ESCO2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776725del , CM000670.2:g.27776725del	GRCh38
NC_000008.10:g.27634242del , CM000670.1:g.27634242del	GRCh37
NC_000008.9:g.27690161del	NCBI36
NG_008117.1:g.7185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.417del MANE Select	ENSP00000306999.8:p.Lys139AsnfsTer6
ENST00000305188.12:c.417del	ENSP00000306999.8:p.Lys139AsnfsTer6
ENST00000522378.5:c.417del	ENSP00000428928.1:p.Lys139AsnfsTer6
ENST00000523566.5:c.417del	ENSP00000428435.1:p.Lys139AsnfsTer6
ENST00000523910.1:n.216del
ENST00000524293.1:n.435del
NM_001017420.2:c.417del	NP_001017420.1:p.Lys139AsnfsTer6
XM_011544421.1:c.417del	XP_011542723.1:p.Lys139AsnfsTer6
XM_011544422.1:c.417del	XP_011542724.1:p.Lys139AsnfsTer6
XR_949378.1:n.501del
XR_949379.1:n.501del
XM_011544421.2:c.417del	XP_011542723.1:p.Lys139AsnfsTer6
XM_011544422.2:c.417del	XP_011542724.1:p.Lys139AsnfsTer6
XR_949378.3:n.501del
NM_001017420.3:c.417del MANE Select	NP_001017420.1:p.Lys139AsnfsTer6