Canonical Allele Identifier: CA174271604

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27799697C>T , CM000670.2:g.27799697C>T	GRCh38
NC_000008.10:g.27657214C>T , CM000670.1:g.27657214C>T	GRCh37
NC_000008.9:g.27713133C>T	NCBI36
NG_008117.1:g.30157C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.1654C>T MANE Select	NP_001017420.1:p.Arg552Ter
ENST00000305188.13:c.1654C>T MANE Select	ENSP00000306999.8:p.Arg552Ter
NM_001017420.2:c.1654C>T	NP_001017420.1:p.Arg552Ter
ENST00000305188.12:c.1654C>T	ENSP00000306999.8:p.Arg552Ter
ENST00000397418.4:c.598C>T	ENSP00000380563.2:p.Arg200Ter
ENST00000522378.5:c.*629C>T	ENSP00000428928.1:n.*629C>T
XM_011544421.1:c.1654C>T	XP_011542723.1:p.Arg552Ter
XM_011544421.2:c.1654C>T	XP_011542723.1:p.Arg552Ter
XM_011544422.1:c.1654C>T	XP_011542724.1:p.Arg552Ter
XM_011544422.2:c.1654C>T	XP_011542724.1:p.Arg552Ter
XR_949378.1:n.1738C>T
XR_949378.3:n.1738C>T
XR_949379.1:n.1738C>T