Canonical Allele Identifier: CA271502
Gene: ESCO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 158574
ClinVar RCV Id: RCV000145967 RCV001430181 RCV001826798 RCV002514815
dbSNP Id: rs557813179
ExAC: 8:27634208 G / A
gnomAD v2: 8-27634208-G-A
gnomAD v3: 8-27776691-G-A
gnomAD v4: 8-27776691-G-A
COSMIC: COSM3647856
MyVariant Identifiers: chr8:g.27634208G>A (hg19) chr8:g.27776691G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27776691G>A , CM000670.2:g.27776691G>A GRCh38
NC_000008.10:g.27634208G>A , CM000670.1:g.27634208G>A GRCh37
NC_000008.9:g.27690127G>A NCBI36
NG_008117.1:g.7151G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305188.13:c.383G>A MANE Select ENSP00000306999.8:p.Gly128Glu
ENST00000305188.12:c.383G>A ENSP00000306999.8:p.Gly128Glu
ENST00000519637.1:c.383G>A ENSP00000428027.1:p.Gly128Glu
ENST00000522378.5:c.383G>A ENSP00000428928.1:p.Gly128Glu
ENST00000523566.5:c.383G>A ENSP00000428435.1:p.Gly128Glu
ENST00000523910.1:n.182G>A
ENST00000524293.1:n.401G>A
NM_001017420.2:c.383G>A NP_001017420.1:p.Gly128Glu
XM_011544421.1:c.383G>A XP_011542723.1:p.Gly128Glu
XM_011544422.1:c.383G>A XP_011542724.1:p.Gly128Glu
XR_949378.1:n.467G>A
XR_949379.1:n.467G>A
XM_011544421.2:c.383G>A XP_011542723.1:p.Gly128Glu
XM_011544422.2:c.383G>A XP_011542724.1:p.Gly128Glu
XR_949378.3:n.467G>A
NM_001017420.3:c.383G>A MANE Select NP_001017420.1:p.Gly128Glu
Search 100 bp 5'
Search 100 bp 3'