Canonical Allele Identifier: CA10630814

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362749
• ClinVar RCV Id: RCV000383426
• dbSNP Id: rs886062863
• MyVariant Identifiers: chr8:g.27661035del (hg19) ; chr8:g.27803518del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803518del , CM000670.2:g.27803518del	GRCh38
NC_000008.10:g.27661035del , CM000670.1:g.27661035del	GRCh37
NC_000008.9:g.27716954del	NCBI36
NG_008117.1:g.33978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*80del MANE Select	ENSP00000306999.8:n.*80del
ENST00000305188.12:c.*80del	ENSP00000306999.8:n.*80del
ENST00000397418.4:c.685+145del	ENSP00000380563.2:n.685+145del
ENST00000522378.5:c.*716+145del	ENSP00000428928.1:n.*716+145del
NM_001017420.2:c.*80del	NP_001017420.1:n.*80del
XM_011544421.1:c.*80del	XP_011542723.1:n.*80del
XM_011544422.1:c.1741+145del	XP_011542724.1:n.1741+145del
XR_949378.1:n.1825+145del
XR_949379.1:n.1825+145del
XM_011544421.2:c.*80del	XP_011542723.1:n.*80del
XM_011544422.2:c.1741+145del	XP_011542724.1:n.1741+145del
XR_949378.3:n.1825+145del
NM_001017420.3:c.*80del MANE Select	NP_001017420.1:n.*80del