Canonical Allele Identifier: CA2655253985

Gene: ESS2 TSSK2

Linked Data

• gnomAD v4: 22-19131694-CTCGAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131697_19131702del , CM000684.2:g.19131697_19131702del	GRCh38
NC_000022.10:g.19119210_19119215del , CM000684.1:g.19119210_19119215del	GRCh37
NC_000022.9:g.17499210_17499215del	NCBI36
NG_008320.1:g.17978_17983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2496_*2501del (ESS2) MANE Select	ENSP00000252137.6:n.*2496_*2501del
ENST00000399635.4:c.298_303del (TSSK2) MANE Select	ENSP00000382544.2:p.Glu100_Phe101del
ENST00000252137.10:c.*2496_*2501del (ESS2)	ENSP00000252137.6:n.*2496_*2501del
ENST00000399635.3:c.298_303del (TSSK2)	ENSP00000382544.2:p.Glu100_Phe101del
NM_022719.2:c.*2496_*2501del (ESS2)	NP_073210.1:n.*2496_*2501del
NM_053006.4:c.298_303del (TSSK2)	NP_443732.3:p.Glu100_Phe101del
XM_005261282.3:c.*2496_*2501del (ESS2)	XP_005261339.1:n.*2496_*2501del
XM_006724329.2:c.*2496_*2501del (ESS2)	XP_006724392.1:n.*2496_*2501del
XM_006724330.2:c.*2496_*2501del (ESS2)	XP_006724393.1:n.*2496_*2501del
XM_006724331.2:c.*2496_*2501del (ESS2)	XP_006724394.1:n.*2496_*2501del
XR_937926.1:n.3885_3890del (ESS2)
NR_134304.1:n.4041_4046del (ESS2)
NM_022719.3:c.*2496_*2501del (ESS2) MANE Select	NP_073210.1:n.*2496_*2501del
NM_053006.5:c.298_303del (TSSK2) MANE Select	NP_443732.3:p.Glu100_Phe101del
NR_134304.2:n.4015_4020del (ESS2)