Canonical Allele Identifier: CA4692200

Gene: ESCO2

Linked Data

• dbSNP Id: rs758690708
• ExAC: 8:27645375 T / TTA
• MyVariant Identifiers: chr8:g.27645375_27645376insTA (hg19) ; chr8:g.27787858_27787859insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27787866_27787867dup , CM000670.2:g.27787866_27787867dup	GRCh38
NC_000008.10:g.27645383_27645384dup , CM000670.1:g.27645383_27645384dup	GRCh37
NC_000008.9:g.27701302_27701303dup	NCBI36
NG_008117.1:g.18326_18327dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000305188.13:c.1014-19_1014-18dup MANE Select	ENSP00000306999.8:n.1014-19_1014-18dup
ENST00000305188.12:c.1014-19_1014-18dup	ENSP00000306999.8:n.1014-19_1014-18dup
ENST00000518262.5:c.128-19_128-18dup
ENST00000522378.5:c.862-19_862-18dup	ENSP00000428928.1:n.862-19_862-18dup
NM_001017420.2:c.1014-19_1014-18dup	NP_001017420.1:n.1014-19_1014-18dup
XM_011544421.1:c.1014-19_1014-18dup	XP_011542723.1:n.1014-19_1014-18dup
XM_011544422.1:c.1014-19_1014-18dup	XP_011542724.1:n.1014-19_1014-18dup
XR_949378.1:n.1098-19_1098-18dup
XR_949379.1:n.1098-19_1098-18dup
XM_011544421.2:c.1014-19_1014-18dup	XP_011542723.1:n.1014-19_1014-18dup
XM_011544422.2:c.1014-19_1014-18dup	XP_011542724.1:n.1014-19_1014-18dup
XR_949378.3:n.1098-19_1098-18dup
NM_001017420.3:c.1014-19_1014-18dup MANE Select	NP_001017420.1:n.1014-19_1014-18dup