Canonical Allele Identifier: CA2830544349

Gene: ESYT2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.158759648_158759651del , CM000669.2:g.158759648_158759651del	GRCh38
NC_000007.13:g.158552339_158552342del , CM000669.1:g.158552339_158552342del	GRCh37
NC_000007.12:g.158245100_158245103del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251527.10:c.1324-70_1324-67del	ENSP00000251527.6:n.1324-70_1324-67del
ENST00000275418.13:c.1324-70_1324-67del MANE Select	ENSP00000275418.8:n.1324-70_1324-67del
ENST00000652148.1:c.1468-70_1468-67del	ENSP00000499020.1:n.1468-70_1468-67del
ENST00000251527.9:c.1468-70_1468-67del	ENSP00000251527.5:n.1468-70_1468-67del
ENST00000275418.11:c.1378-70_1378-67del	ENSP00000275418.7:n.1378-70_1378-67del
ENST00000613624.1:c.1552-70_1552-67del	ENSP00000481296.1:n.1552-70_1552-67del
NM_020728.2:c.1468-70_1468-67del	NP_065779.1:n.1468-70_1468-67del
XM_024446845.1:c.1468-70_1468-67del	XP_024302613.1:n.1468-70_1468-67del
XM_024446846.1:c.1468-70_1468-67del	XP_024302614.1:n.1468-70_1468-67del
XM_024446847.1:c.940-70_940-67del	XP_024302615.1:n.940-70_940-67del
XM_024446848.1:c.817-70_817-67del	XP_024302616.1:n.817-70_817-67del
XM_024446849.1:c.1468-70_1468-67del	XP_024302617.1:n.1468-70_1468-67del
XR_002956471.1:n.1483-70_1483-67del
NM_001367773.1:c.1324-70_1324-67del MANE Select	NP_001354702.1:n.1324-70_1324-67del
NM_020728.3:c.1324-70_1324-67del	NP_065779.2:n.1324-70_1324-67del