Canonical Allele Identifier: CA2841011551

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132106dup , CM000684.2:g.19132106dup	GRCh38
NC_000022.10:g.19119619dup , CM000684.1:g.19119619dup	GRCh37
NC_000022.9:g.17499619dup	NCBI36
NG_008320.1:g.17574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2092dup (ESS2) MANE Select	ENSP00000252137.6:n.*2092dup
ENST00000399635.4:c.707dup (TSSK2) MANE Select	ENSP00000382544.2:p.Arg237AlafsTer29
ENST00000252137.10:c.*2092dup (ESS2)	ENSP00000252137.6:n.*2092dup
ENST00000399635.3:c.707dup (TSSK2)	ENSP00000382544.2:p.Arg237AlafsTer29
NM_022719.2:c.*2092dup (ESS2)	NP_073210.1:n.*2092dup
NM_053006.4:c.707dup (TSSK2)	NP_443732.3:p.Arg237AlafsTer29
XM_005261282.3:c.*2092dup (ESS2)	XP_005261339.1:n.*2092dup
XM_006724329.2:c.*2092dup (ESS2)	XP_006724392.1:n.*2092dup
XM_006724330.2:c.*2092dup (ESS2)	XP_006724393.1:n.*2092dup
XM_006724331.2:c.*2092dup (ESS2)	XP_006724394.1:n.*2092dup
XR_937926.1:n.3481dup (ESS2)
NR_134304.1:n.3637dup (ESS2)
NM_022719.3:c.*2092dup (ESS2) MANE Select	NP_073210.1:n.*2092dup
NM_053006.5:c.707dup (TSSK2) MANE Select	NP_443732.3:p.Arg237AlafsTer29
NR_134304.2:n.3611dup (ESS2)