Allele Registry

Canonical Allele Identifier: CA341784

Gene: ESCO2 HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr8:g.27792775_27792776del

GRCh37 chr8:g.27650292_27650293del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020399

ClinVar Variation:

21237

dbSNP:

80359866

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27792775_27792776del , CM000670.2:g.27792775_27792776del	GRCh38
NC_000008.10:g.27650292_27650293del , CM000670.1:g.27650292_27650293del	GRCh37
NC_000008.9:g.27706211_27706212del	NCBI36
NG_008117.1:g.23235_23236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305188.13:c.1461_1462del MANE Select	ENSP00000306999.8:p.Arg487SerfsTer19
ENST00000305188.12:c.1461_1462del	ENSP00000306999.8:p.Arg487SerfsTer19
ENST00000397418.4:c.405_406del	ENSP00000380563.2:p.Arg135SerfsTer19
ENST00000518262.5:c.467+723_467+724del
ENST00000522378.5:c.436_437del	ENSP00000428928.1:n.436_437del
NM_001017420.2:c.1461_1462del	NP_001017420.1:p.Arg487SerfsTer19
XM_011544421.1:c.1461_1462del	XP_011542723.1:p.Arg487SerfsTer19
XM_011544422.1:c.1461_1462del	XP_011542724.1:p.Arg487SerfsTer19
XR_949378.1:n.1545_1546del
XR_949379.1:n.1545_1546del
XM_011544421.2:c.1461_1462del	XP_011542723.1:p.Arg487SerfsTer19
XM_011544422.2:c.1461_1462del	XP_011542724.1:p.Arg487SerfsTer19
XR_949378.3:n.1545_1546del
NM_001017420.3:c.1461_1462del MANE Select	NP_001017420.1:p.Arg487SerfsTer19

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