Canonical Allele Identifier: CA10630825

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362763
• ClinVar RCV Id: RCV000271260
• dbSNP Id: rs72609983
• gnomAD v2: 8-27661318-C-A
• gnomAD v3: 8-27803801-C-A
• gnomAD v4: 8-27803801-C-A
• MyVariant Identifiers: chr8:g.27661318C>A (hg19) ; chr8:g.27803801C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803801C>A , CM000670.2:g.27803801C>A	GRCh38
NC_000008.10:g.27661318C>A , CM000670.1:g.27661318C>A	GRCh37
NC_000008.9:g.27717237C>A	NCBI36
NG_008117.1:g.34261C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*363C>A MANE Select	ENSP00000306999.8:n.*363C>A
ENST00000305188.12:c.*363C>A	ENSP00000306999.8:n.*363C>A
ENST00000397418.4:c.685+428C>A	ENSP00000380563.2:n.685+428C>A
ENST00000522378.5:c.*716+428C>A	ENSP00000428928.1:n.*716+428C>A
NM_001017420.2:c.*363C>A	NP_001017420.1:n.*363C>A
XM_011544421.1:c.*363C>A	XP_011542723.1:n.*363C>A
XM_011544422.1:c.1741+428C>A	XP_011542724.1:n.1741+428C>A
XR_949378.1:n.1825+428C>A
XR_949379.1:n.1825+428C>A
XM_011544421.2:c.*363C>A	XP_011542723.1:n.*363C>A
XM_011544422.2:c.1741+428C>A	XP_011542724.1:n.1741+428C>A
XR_949378.3:n.1825+428C>A
NM_001017420.3:c.*363C>A MANE Select	NP_001017420.1:n.*363C>A