Canonical Allele Identifier: CA4692030

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 289689
• ClinVar RCV Id: RCV000371273 ; RCV001164977
• dbSNP Id: rs201354290
• ExAC: 8:27634129 A / G
• gnomAD v2: 8-27634129-A-G
• gnomAD v3: 8-27776612-A-G
• gnomAD v4: 8-27776612-A-G
• MyVariant Identifiers: chr8:g.27634129A>G (hg19) ; chr8:g.27776612A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776612A>G , CM000670.2:g.27776612A>G	GRCh38
NC_000008.10:g.27634129A>G , CM000670.1:g.27634129A>G	GRCh37
NC_000008.9:g.27690048A>G	NCBI36
NG_008117.1:g.7072A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.304A>G MANE Select	ENSP00000306999.8:p.Ile102Val
ENST00000305188.12:c.304A>G	ENSP00000306999.8:p.Ile102Val
ENST00000519637.1:c.304A>G	ENSP00000428027.1:p.Ile102Val
ENST00000522378.5:c.304A>G	ENSP00000428928.1:p.Ile102Val
ENST00000523566.5:c.304A>G	ENSP00000428435.1:p.Ile102Val
ENST00000523910.1:n.103A>G
ENST00000524293.1:n.322A>G
NM_001017420.2:c.304A>G	NP_001017420.1:p.Ile102Val
XM_011544421.1:c.304A>G	XP_011542723.1:p.Ile102Val
XM_011544422.1:c.304A>G	XP_011542724.1:p.Ile102Val
XR_949378.1:n.388A>G
XR_949379.1:n.388A>G
XM_011544421.2:c.304A>G	XP_011542723.1:p.Ile102Val
XM_011544422.2:c.304A>G	XP_011542724.1:p.Ile102Val
XR_949378.3:n.388A>G
NM_001017420.3:c.304A>G MANE Select	NP_001017420.1:p.Ile102Val