Canonical Allele Identifier: CA4692153

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780227G>A , CM000670.2:g.27780227G>A	GRCh38
NC_000008.10:g.27637744G>A , CM000670.1:g.27637744G>A	GRCh37
NC_000008.9:g.27693663G>A	NCBI36
NG_008117.1:g.10687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.915G>A MANE Select	NP_001017420.1:p.Glu305=
ENST00000305188.13:c.915G>A MANE Select	ENSP00000306999.8:p.Glu305=
NM_001017420.2:c.915G>A	NP_001017420.1:p.Glu305=
ENST00000305188.12:c.915G>A	ENSP00000306999.8:p.Glu305=
ENST00000518262.5:c.29G>A
ENST00000522378.5:c.861+3058G>A	ENSP00000428928.1:n.861+3058G>A
XM_011544421.1:c.915G>A	XP_011542723.1:p.Glu305=
XM_011544421.2:c.915G>A	XP_011542723.1:p.Glu305=
XM_011544422.1:c.915G>A	XP_011542724.1:p.Glu305=
XM_011544422.2:c.915G>A	XP_011542724.1:p.Glu305=
XR_949378.1:n.999G>A
XR_949378.3:n.999G>A
XR_949379.1:n.999G>A