Canonical Allele Identifier: CA2579129320

Gene: ESCO2

Linked Data

• gnomAD v4: 8-27780281-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780281C>A , CM000670.2:g.27780281C>A	GRCh38
NC_000008.10:g.27637798C>A , CM000670.1:g.27637798C>A	GRCh37
NC_000008.9:g.27693717C>A	NCBI36
NG_008117.1:g.10741C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.955+14C>A MANE Select	ENSP00000306999.8:n.955+14C>A
ENST00000305188.12:c.955+14C>A	ENSP00000306999.8:n.955+14C>A
ENST00000518262.5:c.69+14C>A
ENST00000522378.5:c.861+3112C>A	ENSP00000428928.1:n.861+3112C>A
NM_001017420.2:c.955+14C>A	NP_001017420.1:n.955+14C>A
XM_011544421.1:c.955+14C>A	XP_011542723.1:n.955+14C>A
XM_011544422.1:c.955+14C>A	XP_011542724.1:n.955+14C>A
XR_949378.1:n.1039+14C>A
XR_949379.1:n.1039+14C>A
XM_011544421.2:c.955+14C>A	XP_011542723.1:n.955+14C>A
XM_011544422.2:c.955+14C>A	XP_011542724.1:n.955+14C>A
XR_949378.3:n.1039+14C>A
NM_001017420.3:c.955+14C>A MANE Select	NP_001017420.1:n.955+14C>A