Canonical Allele Identifier: CA4692342
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 362742
ClinVar RCV Id: RCV000300559 RCV000606464 RCV000880622
dbSNP Id: rs114956994
ExAC: 8:27657082 A / G
gnomAD v2: 8-27657082-A-G
gnomAD v3: 8-27799565-A-G
gnomAD v4: 8-27799565-A-G
MyVariant Identifiers: chr8:g.27657082A>G (hg19) chr8:g.27799565A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27799565A>G , CM000670.2:g.27799565A>G GRCh38
NC_000008.10:g.27657082A>G , CM000670.1:g.27657082A>G GRCh37
NC_000008.9:g.27713001A>G NCBI36
NG_008117.1:g.30025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.1522A>G MANE Select ENSP00000306999.8:p.Ile508Val
ENST00000305188.12:c.1522A>G ENSP00000306999.8:p.Ile508Val
ENST00000397418.4:c.466A>G ENSP00000380563.2:p.Ile156Val
ENST00000518262.5:c.492A>G
ENST00000522378.5:c.*497A>G ENSP00000428928.1:n.*497A>G
NM_001017420.2:c.1522A>G NP_001017420.1:p.Ile508Val
XM_011544421.1:c.1522A>G XP_011542723.1:p.Ile508Val
XM_011544422.1:c.1522A>G XP_011542724.1:p.Ile508Val
XR_949378.1:n.1606A>G
XR_949379.1:n.1606A>G
XM_011544421.2:c.1522A>G XP_011542723.1:p.Ile508Val
XM_011544422.2:c.1522A>G XP_011542724.1:p.Ile508Val
XR_949378.3:n.1606A>G
NM_001017420.3:c.1522A>G MANE Select NP_001017420.1:p.Ile508Val
Search 100 bp 5'
Search 100 bp 3'