Canonical Allele Identifier: CA10630829

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362764
• ClinVar RCV Id: RCV000328621
• dbSNP Id: rs72609984
• gnomAD v2: 8-27661380-G-A
• gnomAD v3: 8-27803863-G-A
• gnomAD v4: 8-27803863-G-A
• MyVariant Identifiers: chr8:g.27661380G>A (hg19) ; chr8:g.27803863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803863G>A , CM000670.2:g.27803863G>A	GRCh38
NC_000008.10:g.27661380G>A , CM000670.1:g.27661380G>A	GRCh37
NC_000008.9:g.27717299G>A	NCBI36
NG_008117.1:g.34323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*425G>A MANE Select	ENSP00000306999.8:n.*425G>A
ENST00000305188.12:c.*425G>A	ENSP00000306999.8:n.*425G>A
ENST00000397418.4:c.685+490G>A	ENSP00000380563.2:n.685+490G>A
ENST00000522378.5:c.*716+490G>A	ENSP00000428928.1:n.*716+490G>A
NM_001017420.2:c.*425G>A	NP_001017420.1:n.*425G>A
XM_011544421.1:c.*425G>A	XP_011542723.1:n.*425G>A
XM_011544422.1:c.1741+490G>A	XP_011542724.1:n.1741+490G>A
XR_949378.1:n.1825+490G>A
XR_949379.1:n.1825+490G>A
XM_011544421.2:c.*425G>A	XP_011542723.1:n.*425G>A
XM_011544422.2:c.1741+490G>A	XP_011542724.1:n.1741+490G>A
XR_949378.3:n.1825+490G>A
NM_001017420.3:c.*425G>A MANE Select	NP_001017420.1:n.*425G>A