Canonical Allele Identifier: CA4692103

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27777050A>G , CM000670.2:g.27777050A>G	GRCh38
NC_000008.10:g.27634567A>G , CM000670.1:g.27634567A>G	GRCh37
NC_000008.9:g.27690486A>G	NCBI36
NG_008117.1:g.7510A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.742A>G MANE Select	NP_001017420.1:p.Thr248Ala
ENST00000305188.13:c.742A>G MANE Select	ENSP00000306999.8:p.Thr248Ala
NM_001017420.2:c.742A>G	NP_001017420.1:p.Thr248Ala
ENST00000305188.12:c.742A>G	ENSP00000306999.8:p.Thr248Ala
ENST00000522378.5:c.742A>G	ENSP00000428928.1:p.Thr248Ala
ENST00000523910.1:n.541A>G
ENST00000524293.1:n.760A>G
XM_011544421.1:c.742A>G	XP_011542723.1:p.Thr248Ala
XM_011544421.2:c.742A>G	XP_011542723.1:p.Thr248Ala
XM_011544422.1:c.742A>G	XP_011542724.1:p.Thr248Ala
XM_011544422.2:c.742A>G	XP_011542724.1:p.Thr248Ala
XR_949378.1:n.826A>G
XR_949378.3:n.826A>G
XR_949379.1:n.826A>G