Canonical Allele Identifier: CA2686704266

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27777067_27777068dup , CM000670.2:g.27777067_27777068dup	GRCh38
NC_000008.10:g.27634584_27634585dup , CM000670.1:g.27634584_27634585dup	GRCh37
NC_000008.9:g.27690503_27690504dup	NCBI36
NG_008117.1:g.7527_7528dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.759_760dup MANE Select	NP_001017420.1:p.Thr254LysfsTer14
ENST00000305188.13:c.759_760dup MANE Select	ENSP00000306999.8:p.Thr254LysfsTer14
NM_001017420.2:c.759_760dup	NP_001017420.1:p.Thr254LysfsTer14
ENST00000305188.12:c.759_760dup	ENSP00000306999.8:p.Thr254LysfsTer14
ENST00000522378.5:c.759_760dup	ENSP00000428928.1:p.Thr254LysfsTer14
ENST00000523910.1:n.558_559dup
ENST00000524293.1:n.777_778dup
XM_011544421.1:c.759_760dup	XP_011542723.1:p.Thr254LysfsTer14
XM_011544421.2:c.759_760dup	XP_011542723.1:p.Thr254LysfsTer14
XM_011544422.1:c.759_760dup	XP_011542724.1:p.Thr254LysfsTer14
XM_011544422.2:c.759_760dup	XP_011542724.1:p.Thr254LysfsTer14
XR_949378.1:n.843_844dup
XR_949378.3:n.843_844dup
XR_949379.1:n.843_844dup