Canonical Allele Identifier: CA370823769

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27788003G>T , CM000670.2:g.27788003G>T	GRCh38
NC_000008.10:g.27645520G>T , CM000670.1:g.27645520G>T	GRCh37
NC_000008.9:g.27701439G>T	NCBI36
NG_008117.1:g.18463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.1131+1G>T MANE Select	ENSP00000306999.8:n.1131+1G>T
ENST00000305188.12:c.1131+1G>T	ENSP00000306999.8:n.1131+1G>T
ENST00000397418.4:c.75+1G>T	ENSP00000380563.2:n.75+1G>T
ENST00000518262.5:c.245+1G>T
ENST00000522378.5:c.*106+1G>T	ENSP00000428928.1:n.*106+1G>T
NM_001017420.2:c.1131+1G>T	NP_001017420.1:n.1131+1G>T
XM_011544421.1:c.1131+1G>T	XP_011542723.1:n.1131+1G>T
XM_011544422.1:c.1131+1G>T	XP_011542724.1:n.1131+1G>T
XR_949378.1:n.1215+1G>T
XR_949379.1:n.1215+1G>T
XM_011544421.2:c.1131+1G>T	XP_011542723.1:n.1131+1G>T
XM_011544422.2:c.1131+1G>T	XP_011542724.1:n.1131+1G>T
XR_949378.3:n.1215+1G>T
NM_001017420.3:c.1131+1G>T MANE Select	NP_001017420.1:n.1131+1G>T