Canonical Allele Identifier: CA2838360714

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132261dup , CM000684.2:g.19132261dup	GRCh38
NC_000022.10:g.19119774dup , CM000684.1:g.19119774dup	GRCh37
NC_000022.9:g.17499774dup	NCBI36
NG_008320.1:g.17419dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1937dup (ESS2) MANE Select	ENSP00000252137.6:n.*1937dup
ENST00000399635.4:c.862dup (TSSK2) MANE Select	ENSP00000382544.2:p.Glu288GlyfsTer9
ENST00000252137.10:c.*1937dup (ESS2)	ENSP00000252137.6:n.*1937dup
ENST00000399635.3:c.862dup (TSSK2)	ENSP00000382544.2:p.Glu288GlyfsTer9
NM_022719.2:c.*1937dup (ESS2)	NP_073210.1:n.*1937dup
NM_053006.4:c.862dup (TSSK2)	NP_443732.3:p.Glu288GlyfsTer9
XM_005261282.3:c.*1937dup (ESS2)	XP_005261339.1:n.*1937dup
XM_006724329.2:c.*1937dup (ESS2)	XP_006724392.1:n.*1937dup
XM_006724330.2:c.*1937dup (ESS2)	XP_006724393.1:n.*1937dup
XM_006724331.2:c.*1937dup (ESS2)	XP_006724394.1:n.*1937dup
XR_937926.1:n.3326dup (ESS2)
NR_134304.1:n.3482dup (ESS2)
NM_022719.3:c.*1937dup (ESS2) MANE Select	NP_073210.1:n.*1937dup
NM_053006.5:c.862dup (TSSK2) MANE Select	NP_443732.3:p.Glu288GlyfsTer9
NR_134304.2:n.3456dup (ESS2)