Canonical Allele Identifier: CA4692155

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780241A>T , CM000670.2:g.27780241A>T	GRCh38
NC_000008.10:g.27637758A>T , CM000670.1:g.27637758A>T	GRCh37
NC_000008.9:g.27693677A>T	NCBI36
NG_008117.1:g.10701A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.929A>T MANE Select	NP_001017420.1:p.Glu310Val
ENST00000305188.13:c.929A>T MANE Select	ENSP00000306999.8:p.Glu310Val
NM_001017420.2:c.929A>T	NP_001017420.1:p.Glu310Val
ENST00000305188.12:c.929A>T	ENSP00000306999.8:p.Glu310Val
ENST00000518262.5:c.43A>T
ENST00000522378.5:c.861+3072A>T	ENSP00000428928.1:n.861+3072A>T
XM_011544421.1:c.929A>T	XP_011542723.1:p.Glu310Val
XM_011544421.2:c.929A>T	XP_011542723.1:p.Glu310Val
XM_011544422.1:c.929A>T	XP_011542724.1:p.Glu310Val
XM_011544422.2:c.929A>T	XP_011542724.1:p.Glu310Val
XR_949378.1:n.1013A>T
XR_949378.3:n.1013A>T
XR_949379.1:n.1013A>T