Canonical Allele Identifier: CA2655248165

Gene: ESS2 TSSK2

Linked Data

• gnomAD v4: 22-19132126-TGCGAGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132127_19132133del , CM000684.2:g.19132127_19132133del	GRCh38
NC_000022.10:g.19119640_19119646del , CM000684.1:g.19119640_19119646del	GRCh37
NC_000022.9:g.17499640_17499646del	NCBI36
NG_008320.1:g.17545_17551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2063_*2069del (ESS2) MANE Select	ENSP00000252137.6:n.*2063_*2069del
ENST00000399635.4:c.728_734del (TSSK2) MANE Select	ENSP00000382544.2:p.Cys243SerfsTer?
ENST00000252137.10:c.*2063_*2069del (ESS2)	ENSP00000252137.6:n.*2063_*2069del
ENST00000399635.3:c.728_734del (TSSK2)	ENSP00000382544.2:p.Cys243SerfsTer?
NM_022719.2:c.*2063_*2069del (ESS2)	NP_073210.1:n.*2063_*2069del
NM_053006.4:c.728_734del (TSSK2)	NP_443732.3:p.Cys243SerfsTer?
XM_005261282.3:c.*2063_*2069del (ESS2)	XP_005261339.1:n.*2063_*2069del
XM_006724329.2:c.*2063_*2069del (ESS2)	XP_006724392.1:n.*2063_*2069del
XM_006724330.2:c.*2063_*2069del (ESS2)	XP_006724393.1:n.*2063_*2069del
XM_006724331.2:c.*2063_*2069del (ESS2)	XP_006724394.1:n.*2063_*2069del
XR_937926.1:n.3452_3458del (ESS2)
NR_134304.1:n.3608_3614del (ESS2)
NM_022719.3:c.*2063_*2069del (ESS2) MANE Select	NP_073210.1:n.*2063_*2069del
NM_053006.5:c.728_734del (TSSK2) MANE Select	NP_443732.3:p.Cys243SerfsTer?
NR_134304.2:n.3582_3588del (ESS2)