Canonical Allele Identifier: CA4692161

Gene: ESCO2

Linked Data

• ClinVar Variation Id: 796174
• ClinVar RCV Id: RCV000979543 ; RCV001273605
• dbSNP Id: rs555057427
• ExAC: 8:27637787 AAG / A
• gnomAD v2: 8-27637787-AAG-A
• gnomAD v3: 8-27780270-AAG-A
• gnomAD v4: 8-27780270-AAG-A
• MyVariant Identifiers: chr8:g.27637788_27637789del (hg19) ; chr8:g.27780272_27780273del (hg38) ; chr8:g.27780271_27780272del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27780274_27780275del , CM000670.2:g.27780274_27780275del	GRCh38
NC_000008.10:g.27637791_27637792del , CM000670.1:g.27637791_27637792del	GRCh37
NC_000008.9:g.27693710_27693711del	NCBI36
NG_008117.1:g.10734_10735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.955+7_955+8del MANE Select	ENSP00000306999.8:n.955+7_955+8del
ENST00000305188.12:c.955+7_955+8del	ENSP00000306999.8:n.955+7_955+8del
ENST00000518262.5:c.69+7_69+8del
ENST00000522378.5:c.861+3105_861+3106del	ENSP00000428928.1:n.861+3105_861+3106del
NM_001017420.2:c.955+7_955+8del	NP_001017420.1:n.955+7_955+8del
XM_011544421.1:c.955+7_955+8del	XP_011542723.1:n.955+7_955+8del
XM_011544422.1:c.955+7_955+8del	XP_011542724.1:n.955+7_955+8del
XR_949378.1:n.1039+7_1039+8del
XR_949379.1:n.1039+7_1039+8del
XM_011544421.2:c.955+7_955+8del	XP_011542723.1:n.955+7_955+8del
XM_011544422.2:c.955+7_955+8del	XP_011542724.1:n.955+7_955+8del
XR_949378.3:n.1039+7_1039+8del
NM_001017420.3:c.955+7_955+8del MANE Select	NP_001017420.1:n.955+7_955+8del