Canonical Allele Identifier: CA1772950149
Gene: ESCO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.27787975_27787978delinsTAAA , CM000670.2:g.27787975_27787978delinsTAAA GRCh38
NC_000008.10:g.27645492_27645495delinsTAAA , CM000670.1:g.27645492_27645495delinsTAAA GRCh37
NC_000008.9:g.27701411_27701414delinsTAAA NCBI36
NG_008117.1:g.18435_18438delinsTAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000305188.13:c.1104_1107delinsTAAA MANE Select ENSP00000306999.8:p.Ser368=
ENST00000305188.12:c.1104_1107delinsTAAA ENSP00000306999.8:p.Ser368=
ENST00000397418.4:c.48_51delinsTAAA ENSP00000380563.2:p.Ser16=
ENST00000518262.5:c.218_221delinsTAAA
ENST00000522378.5:c.*79_*82delinsTAAA ENSP00000428928.1:n.*79_*82delinsTAAA
NM_001017420.2:c.1104_1107delinsTAAA NP_001017420.1:p.Ser368=
XM_011544421.1:c.1104_1107delinsTAAA XP_011542723.1:p.Ser368=
XM_011544422.1:c.1104_1107delinsTAAA XP_011542724.1:p.Ser368=
XR_949378.1:n.1188_1191delinsTAAA
XR_949379.1:n.1188_1191delinsTAAA
XM_011544421.2:c.1104_1107delinsTAAA XP_011542723.1:p.Ser368=
XM_011544422.2:c.1104_1107delinsTAAA XP_011542724.1:p.Ser368=
XR_949378.3:n.1188_1191delinsTAAA
NM_001017420.3:c.1104_1107delinsTAAA MANE Select NP_001017420.1:p.Ser368=