Canonical Allele Identifier: CA1772950108

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 2890353
• ClinVar RCV Id: RCV003720465
• dbSNP Id: rs1563474628
• gnomAD v4: 8-27787872-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787872T>C , CM000670.2:g.27787872T>C	GRCh38
NC_000008.10:g.27645389T>C , CM000670.1:g.27645389T>C	GRCh37
NC_000008.9:g.27701308T>C	NCBI36
NG_008117.1:g.18332T>C

Transcript Alleles

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