Canonical Allele Identifier: CA2686705763

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27780288-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780291del , CM000670.2:g.27780291del	GRCh38
NC_000008.10:g.27637808del , CM000670.1:g.27637808del	GRCh37
NC_000008.9:g.27693727del	NCBI36
NG_008117.1:g.10751del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.955+24del MANE Select	ENSP00000306999.8:n.955+24del
ENST00000305188.12:c.955+24del	ENSP00000306999.8:n.955+24del
ENST00000518262.5:c.69+24del
ENST00000522378.5:c.861+3122del	ENSP00000428928.1:n.861+3122del
NM_001017420.2:c.955+24del	NP_001017420.1:n.955+24del
XM_011544421.1:c.955+24del	XP_011542723.1:n.955+24del
XM_011544422.1:c.955+24del	XP_011542724.1:n.955+24del
XR_949378.1:n.1039+24del
XR_949379.1:n.1039+24del
XM_011544421.2:c.955+24del	XP_011542723.1:n.955+24del
XM_011544422.2:c.955+24del	XP_011542724.1:n.955+24del
XR_949378.3:n.1039+24del
NM_001017420.3:c.955+24del MANE Select	NP_001017420.1:n.955+24del