Canonical Allele Identifier: CA4692388

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362745
• ClinVar RCV Id: RCV000322985 ; RCV000906000 ; RCV001374520
• dbSNP Id: rs115144373
• ExAC: 8:27660884 C / A
• gnomAD v2: 8-27660884-C-A
• gnomAD v3: 8-27803367-C-A
• gnomAD v4: 8-27803367-C-A
• MyVariant Identifiers: chr8:g.27660884C>A (hg19) ; chr8:g.27803367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803367C>A , CM000670.2:g.27803367C>A	GRCh38
NC_000008.10:g.27660884C>A , CM000670.1:g.27660884C>A	GRCh37
NC_000008.9:g.27716803C>A	NCBI36
NG_008117.1:g.33827C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1735C>A MANE Select	ENSP00000306999.8:p.Pro579Thr
ENST00000305188.12:c.1735C>A	ENSP00000306999.8:p.Pro579Thr
ENST00000397418.4:c.679C>A	ENSP00000380563.2:p.Pro227Thr
ENST00000522378.5:c.*710C>A	ENSP00000428928.1:n.*710C>A
NM_001017420.2:c.1735C>A	NP_001017420.1:p.Pro579Thr
XM_011544421.1:c.1735C>A	XP_011542723.1:p.Pro579Thr
XM_011544422.1:c.1735C>A	XP_011542724.1:p.Pro579Thr
XR_949378.1:n.1819C>A
XR_949379.1:n.1819C>A
XM_011544421.2:c.1735C>A	XP_011542723.1:p.Pro579Thr
XM_011544422.2:c.1735C>A	XP_011542724.1:p.Pro579Thr
XR_949378.3:n.1819C>A
NM_001017420.3:c.1735C>A MANE Select	NP_001017420.1:p.Pro579Thr