Canonical Allele Identifier: CA10625317

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 362756
• ClinVar RCV Id: RCV000338188
• dbSNP Id: rs869163244
• MyVariant Identifiers: chr8:g.27661085delinsACACACACACA (hg19) ; chr8:g.27803568delinsACACACACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27803568delinsACACACACACA , CM000670.2:g.27803568delinsACACACACACA	GRCh38
NC_000008.10:g.27661085delinsACACACACACA , CM000670.1:g.27661085delinsACACACACACA	GRCh37
NC_000008.9:g.27717004delinsACACACACACA	NCBI36
NG_008117.1:g.34028delinsACACACACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.*130delinsACACACACACA MANE Select	ENSP00000306999.8:n.*130delinsACACACACACA
ENST00000305188.12:c.*130delinsACACACACACA	ENSP00000306999.8:n.*130delinsACACACACACA
ENST00000397418.4:c.685+195delinsACACACACACA	ENSP00000380563.2:n.685+195delinsACACACACACA
ENST00000522378.5:c.*716+195delinsACACACACACA	ENSP00000428928.1:n.*716+195delinsACACACACACA
NM_001017420.2:c.*130delinsACACACACACA	NP_001017420.1:n.*130delinsACACACACACA
XM_011544421.1:c.*130delinsACACACACACA	XP_011542723.1:n.*130delinsACACACACACA
XM_011544422.1:c.1741+195delinsACACACACACA	XP_011542724.1:n.1741+195delinsACACACACACA
XR_949378.1:n.1825+195delinsACACACACACA
XR_949379.1:n.1825+195delinsACACACACACA
XM_011544421.2:c.*130delinsACACACACACA	XP_011542723.1:n.*130delinsACACACACACA
XM_011544422.2:c.1741+195delinsACACACACACA	XP_011542724.1:n.1741+195delinsACACACACACA
XR_949378.3:n.1825+195delinsACACACACACA
NM_001017420.3:c.*130delinsACACACACACA MANE Select	NP_001017420.1:n.*130delinsACACACACACA