Canonical Allele Identifier: CA2573142684

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 1603502
• ClinVar RCV Id: RCV002142090
• dbSNP Id: rs2128954803

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787881C>T , CM000670.2:g.27787881C>T	GRCh38
NC_000008.10:g.27645398C>T , CM000670.1:g.27645398C>T	GRCh37
NC_000008.9:g.27701317C>T	NCBI36
NG_008117.1:g.18341C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-4C>T MANE Select	ENSP00000306999.8:n.1014-4C>T
ENST00000305188.12:c.1014-4C>T	ENSP00000306999.8:n.1014-4C>T
ENST00000518262.5:c.128-4C>T
ENST00000522378.5:c.862-4C>T	ENSP00000428928.1:n.862-4C>T
NM_001017420.2:c.1014-4C>T	NP_001017420.1:n.1014-4C>T
XM_011544421.1:c.1014-4C>T	XP_011542723.1:n.1014-4C>T
XM_011544422.1:c.1014-4C>T	XP_011542724.1:n.1014-4C>T
XR_949378.1:n.1098-4C>T
XR_949379.1:n.1098-4C>T
XM_011544421.2:c.1014-4C>T	XP_011542723.1:n.1014-4C>T
XM_011544422.2:c.1014-4C>T	XP_011542724.1:n.1014-4C>T
XR_949378.3:n.1098-4C>T
NM_001017420.3:c.1014-4C>T MANE Select	NP_001017420.1:n.1014-4C>T