Canonical Allele Identifier: CA1772950103

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2959734
• ClinVar RCV Id: RCV003811909
• dbSNP Id: rs1805081701
• gnomAD v4: 8-27787866-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787866A>G , CM000670.2:g.27787866A>G	GRCh38
NC_000008.10:g.27645383A>G , CM000670.1:g.27645383A>G	GRCh37
NC_000008.9:g.27701302A>G	NCBI36
NG_008117.1:g.18326A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-19A>G MANE Select	ENSP00000306999.8:n.1014-19A>G
ENST00000305188.12:c.1014-19A>G	ENSP00000306999.8:n.1014-19A>G
ENST00000518262.5:c.128-19A>G
ENST00000522378.5:c.862-19A>G	ENSP00000428928.1:n.862-19A>G
NM_001017420.2:c.1014-19A>G	NP_001017420.1:n.1014-19A>G
XM_011544421.1:c.1014-19A>G	XP_011542723.1:n.1014-19A>G
XM_011544422.1:c.1014-19A>G	XP_011542724.1:n.1014-19A>G
XR_949378.1:n.1098-19A>G
XR_949379.1:n.1098-19A>G
XM_011544421.2:c.1014-19A>G	XP_011542723.1:n.1014-19A>G
XM_011544422.2:c.1014-19A>G	XP_011542724.1:n.1014-19A>G
XR_949378.3:n.1098-19A>G
NM_001017420.3:c.1014-19A>G MANE Select	NP_001017420.1:n.1014-19A>G