Canonical Allele Identifier: CA580675388

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2959959
• ClinVar RCV Id: RCV003814719
• dbSNP Id: rs1448451556
• gnomAD v2: 8-27637803-G-A
• gnomAD v4: 8-27780286-G-A
• MyVariant Identifiers: chr8:g.27637803G>A (hg19) ; chr8:g.27780286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780286G>A , CM000670.2:g.27780286G>A	GRCh38
NC_000008.10:g.27637803G>A , CM000670.1:g.27637803G>A	GRCh37
NC_000008.9:g.27693722G>A	NCBI36
NG_008117.1:g.10746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.955+19G>A MANE Select	ENSP00000306999.8:n.955+19G>A
ENST00000305188.12:c.955+19G>A	ENSP00000306999.8:n.955+19G>A
ENST00000518262.5:c.69+19G>A
ENST00000522378.5:c.861+3117G>A	ENSP00000428928.1:n.861+3117G>A
NM_001017420.2:c.955+19G>A	NP_001017420.1:n.955+19G>A
XM_011544421.1:c.955+19G>A	XP_011542723.1:n.955+19G>A
XM_011544422.1:c.955+19G>A	XP_011542724.1:n.955+19G>A
XR_949378.1:n.1039+19G>A
XR_949379.1:n.1039+19G>A
XM_011544421.2:c.955+19G>A	XP_011542723.1:n.955+19G>A
XM_011544422.2:c.955+19G>A	XP_011542724.1:n.955+19G>A
XR_949378.3:n.1039+19G>A
NM_001017420.3:c.955+19G>A MANE Select	NP_001017420.1:n.955+19G>A