Canonical Allele Identifier: CA1772950111

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2877937
• ClinVar RCV Id: RCV003715216
• dbSNP Id: rs1805082187

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787876T>C , CM000670.2:g.27787876T>C	GRCh38
NC_000008.10:g.27645393T>C , CM000670.1:g.27645393T>C	GRCh37
NC_000008.9:g.27701312T>C	NCBI36
NG_008117.1:g.18336T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-9T>C MANE Select	ENSP00000306999.8:n.1014-9T>C
ENST00000305188.12:c.1014-9T>C	ENSP00000306999.8:n.1014-9T>C
ENST00000518262.5:c.128-9T>C
ENST00000522378.5:c.862-9T>C	ENSP00000428928.1:n.862-9T>C
NM_001017420.2:c.1014-9T>C	NP_001017420.1:n.1014-9T>C
XM_011544421.1:c.1014-9T>C	XP_011542723.1:n.1014-9T>C
XM_011544422.1:c.1014-9T>C	XP_011542724.1:n.1014-9T>C
XR_949378.1:n.1098-9T>C
XR_949379.1:n.1098-9T>C
XM_011544421.2:c.1014-9T>C	XP_011542723.1:n.1014-9T>C
XM_011544422.2:c.1014-9T>C	XP_011542724.1:n.1014-9T>C
XR_949378.3:n.1098-9T>C
NM_001017420.3:c.1014-9T>C MANE Select	NP_001017420.1:n.1014-9T>C