Canonical Allele Identifier: CA2579129321

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2975942
• ClinVar RCV Id: RCV003834028
• gnomAD v4: 8-27780284-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780284A>G , CM000670.2:g.27780284A>G	GRCh38
NC_000008.10:g.27637801A>G , CM000670.1:g.27637801A>G	GRCh37
NC_000008.9:g.27693720A>G	NCBI36
NG_008117.1:g.10744A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.955+17A>G MANE Select	ENSP00000306999.8:n.955+17A>G
ENST00000305188.12:c.955+17A>G	ENSP00000306999.8:n.955+17A>G
ENST00000518262.5:c.69+17A>G
ENST00000522378.5:c.861+3115A>G	ENSP00000428928.1:n.861+3115A>G
NM_001017420.2:c.955+17A>G	NP_001017420.1:n.955+17A>G
XM_011544421.1:c.955+17A>G	XP_011542723.1:n.955+17A>G
XM_011544422.1:c.955+17A>G	XP_011542724.1:n.955+17A>G
XR_949378.1:n.1039+17A>G
XR_949379.1:n.1039+17A>G
XM_011544421.2:c.955+17A>G	XP_011542723.1:n.955+17A>G
XM_011544422.2:c.955+17A>G	XP_011542724.1:n.955+17A>G
XR_949378.3:n.1039+17A>G
NM_001017420.3:c.955+17A>G MANE Select	NP_001017420.1:n.955+17A>G