Canonical Allele Identifier: CA4692031

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362731
• ClinVar RCV Id: RCV000317353 ; RCV002523674
• dbSNP Id: rs199638838
• ExAC: 8:27634142 G / A
• gnomAD v2: 8-27634142-G-A
• gnomAD v3: 8-27776625-G-A
• gnomAD v4: 8-27776625-G-A
• MyVariant Identifiers: chr8:g.27634142G>A (hg19) ; chr8:g.27776625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27776625G>A , CM000670.2:g.27776625G>A	GRCh38
NC_000008.10:g.27634142G>A , CM000670.1:g.27634142G>A	GRCh37
NC_000008.9:g.27690061G>A	NCBI36
NG_008117.1:g.7085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.317G>A MANE Select	ENSP00000306999.8:p.Arg106Lys
ENST00000305188.12:c.317G>A	ENSP00000306999.8:p.Arg106Lys
ENST00000519637.1:c.317G>A	ENSP00000428027.1:p.Arg106Lys
ENST00000522378.5:c.317G>A	ENSP00000428928.1:p.Arg106Lys
ENST00000523566.5:c.317G>A	ENSP00000428435.1:p.Arg106Lys
ENST00000523910.1:n.116G>A
ENST00000524293.1:n.335G>A
NM_001017420.2:c.317G>A	NP_001017420.1:p.Arg106Lys
XM_011544421.1:c.317G>A	XP_011542723.1:p.Arg106Lys
XM_011544422.1:c.317G>A	XP_011542724.1:p.Arg106Lys
XR_949378.1:n.401G>A
XR_949379.1:n.401G>A
XM_011544421.2:c.317G>A	XP_011542723.1:p.Arg106Lys
XM_011544422.2:c.317G>A	XP_011542724.1:p.Arg106Lys
XR_949378.3:n.401G>A
NM_001017420.3:c.317G>A MANE Select	NP_001017420.1:p.Arg106Lys