Canonical Allele Identifier: CA4692033

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776633T>C , CM000670.2:g.27776633T>C	GRCh38
NC_000008.10:g.27634150T>C , CM000670.1:g.27634150T>C	GRCh37
NC_000008.9:g.27690069T>C	NCBI36
NG_008117.1:g.7093T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.325T>C MANE Select	NP_001017420.1:p.Cys109Arg
ENST00000305188.13:c.325T>C MANE Select	ENSP00000306999.8:p.Cys109Arg
NM_001017420.2:c.325T>C	NP_001017420.1:p.Cys109Arg
ENST00000305188.12:c.325T>C	ENSP00000306999.8:p.Cys109Arg
ENST00000519637.1:c.325T>C	ENSP00000428027.1:p.Cys109Arg
ENST00000522378.5:c.325T>C	ENSP00000428928.1:p.Cys109Arg
ENST00000523566.5:c.325T>C	ENSP00000428435.1:p.Cys109Arg
ENST00000523910.1:n.124T>C
ENST00000524293.1:n.343T>C
XM_011544421.1:c.325T>C	XP_011542723.1:p.Cys109Arg
XM_011544421.2:c.325T>C	XP_011542723.1:p.Cys109Arg
XM_011544422.1:c.325T>C	XP_011542724.1:p.Cys109Arg
XM_011544422.2:c.325T>C	XP_011542724.1:p.Cys109Arg
XR_949378.1:n.409T>C
XR_949378.3:n.409T>C
XR_949379.1:n.409T>C