Canonical Allele Identifier: CA174261743

Gene: ESCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27788842T>G , CM000670.2:g.27788842T>G	GRCh38
NC_000008.10:g.27646359T>G , CM000670.1:g.27646359T>G	GRCh37
NC_000008.9:g.27702278T>G	NCBI36
NG_008117.1:g.19302T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001017420.3:c.1132-5T>G MANE Select	NP_001017420.1:n.1132-5T>G
ENST00000305188.13:c.1132-5T>G MANE Select	ENSP00000306999.8:n.1132-5T>G
NM_001017420.2:c.1132-5T>G	NP_001017420.1:n.1132-5T>G
ENST00000305188.12:c.1132-5T>G	ENSP00000306999.8:n.1132-5T>G
ENST00000397418.4:c.76-5T>G	ENSP00000380563.2:n.76-5T>G
ENST00000518262.5:c.246-5T>G
ENST00000522378.5:c.*107-5T>G	ENSP00000428928.1:n.*107-5T>G
XM_011544421.1:c.1132-5T>G	XP_011542723.1:n.1132-5T>G
XM_011544421.2:c.1132-5T>G	XP_011542723.1:n.1132-5T>G
XM_011544422.1:c.1132-5T>G	XP_011542724.1:n.1132-5T>G
XM_011544422.2:c.1132-5T>G	XP_011542724.1:n.1132-5T>G
XR_949378.1:n.1216-5T>G
XR_949378.3:n.1216-5T>G
XR_949379.1:n.1216-5T>G