Canonical Allele Identifier: CA4692217

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2198442
• ClinVar RCV Id: RCV002640422 ; RCV004070824
• dbSNP Id: rs140062105
• ExAC: 8:27645516 C / G
• gnomAD v2: 8-27645516-C-G
• gnomAD v3: 8-27787999-C-G
• gnomAD v4: 8-27787999-C-G
• MyVariant Identifiers: chr8:g.27645516C>G (hg19) ; chr8:g.27787999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787999C>G , CM000670.2:g.27787999C>G	GRCh38
NC_000008.10:g.27645516C>G , CM000670.1:g.27645516C>G	GRCh37
NC_000008.9:g.27701435C>G	NCBI36
NG_008117.1:g.18459C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.1128C>G MANE Select	ENSP00000306999.8:p.Ile376Met
ENST00000305188.12:c.1128C>G	ENSP00000306999.8:p.Ile376Met
ENST00000397418.4:c.72C>G	ENSP00000380563.2:p.Ile24Met
ENST00000518262.5:c.242C>G
ENST00000522378.5:c.*103C>G	ENSP00000428928.1:n.*103C>G
NM_001017420.2:c.1128C>G	NP_001017420.1:p.Ile376Met
XM_011544421.1:c.1128C>G	XP_011542723.1:p.Ile376Met
XM_011544422.1:c.1128C>G	XP_011542724.1:p.Ile376Met
XR_949378.1:n.1212C>G
XR_949379.1:n.1212C>G
XM_011544421.2:c.1128C>G	XP_011542723.1:p.Ile376Met
XM_011544422.2:c.1128C>G	XP_011542724.1:p.Ile376Met
XR_949378.3:n.1212C>G
NM_001017420.3:c.1128C>G MANE Select	NP_001017420.1:p.Ile376Met