Canonical Allele Identifier: CA341780
Gene: ESCO2 HGNC NCBI
ClinVar RCV:
RCV000020395
RCV001228633
RCV001826483
ClinVar Variation:
21233
COSMIC:
COSM3382203
dbSNP:
80359861
gnomAD v2:
8:27645520 G / A
gnomAD v3:
8:27788003 G / A
gnomAD v4:
chr8-27788003-G-A
Joint Max Group AF 0.00002174 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002138 (NFE)
MyVariant.info:
GRCh38 chr8:g.27788003G>A
GRCh37 chr8:g.27645520G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27788003G>A , CM000670.2:g.27788003G>A GRCh38
NC_000008.10:g.27645520G>A , CM000670.1:g.27645520G>A GRCh37
NC_000008.9:g.27701439G>A NCBI36
NG_008117.1:g.18463G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.1131+1G>A MANE Select ENSP00000306999.8:n.1131+1G>A
ENST00000305188.12:c.1131+1G>A ENSP00000306999.8:n.1131+1G>A
ENST00000397418.4:c.75+1G>A ENSP00000380563.2:n.75+1G>A
ENST00000518262.5:c.245+1G>A
ENST00000522378.5:c.*106+1G>A ENSP00000428928.1:n.*106+1G>A
NM_001017420.2:c.1131+1G>A NP_001017420.1:n.1131+1G>A
XM_011544421.1:c.1131+1G>A XP_011542723.1:n.1131+1G>A
XM_011544422.1:c.1131+1G>A XP_011542724.1:n.1131+1G>A
XR_949378.1:n.1215+1G>A
XR_949379.1:n.1215+1G>A
XM_011544421.2:c.1131+1G>A XP_011542723.1:n.1131+1G>A
XM_011544422.2:c.1131+1G>A XP_011542724.1:n.1131+1G>A
XR_949378.3:n.1215+1G>A
NM_001017420.3:c.1131+1G>A MANE Select NP_001017420.1:n.1131+1G>A
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