Canonical Allele Identifier: CA10096380

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs770540053
• ExAC: 22:19119451 CATATGCA / C
• gnomAD v2: 22-19119451-CATATGCA-C
• gnomAD v4: 22-19131938-CATATGCA-C
• MyVariant Identifiers: chr22:g.19119452_19119458del (hg19) ; chr22:g.19131939_19131945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131939_19131945del , CM000684.2:g.19131939_19131945del	GRCh38
NC_000022.10:g.19119452_19119458del , CM000684.1:g.19119452_19119458del	GRCh37
NC_000022.9:g.17499452_17499458del	NCBI36
NG_008320.1:g.17733_17739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2251_*2257del (ESS2) MANE Select	ENSP00000252137.6:n.*2251_*2257del
ENST00000399635.4:c.540_546del (TSSK2) MANE Select	ENSP00000382544.2:p.Tyr181ProfsTer22
ENST00000252137.10:c.*2251_*2257del (ESS2)	ENSP00000252137.6:n.*2251_*2257del
ENST00000399635.3:c.540_546del (TSSK2)	ENSP00000382544.2:p.Tyr181ProfsTer22
NM_022719.2:c.*2251_*2257del (ESS2)	NP_073210.1:n.*2251_*2257del
NM_053006.4:c.540_546del (TSSK2)	NP_443732.3:p.Tyr181ProfsTer22
XM_005261282.3:c.*2251_*2257del (ESS2)	XP_005261339.1:n.*2251_*2257del
XM_006724329.2:c.*2251_*2257del (ESS2)	XP_006724392.1:n.*2251_*2257del
XM_006724330.2:c.*2251_*2257del (ESS2)	XP_006724393.1:n.*2251_*2257del
XM_006724331.2:c.*2251_*2257del (ESS2)	XP_006724394.1:n.*2251_*2257del
XR_937926.1:n.3640_3646del (ESS2)
NR_134304.1:n.3796_3802del (ESS2)
NM_022719.3:c.*2251_*2257del (ESS2) MANE Select	NP_073210.1:n.*2251_*2257del
NM_053006.5:c.540_546del (TSSK2) MANE Select	NP_443732.3:p.Tyr181ProfsTer22
NR_134304.2:n.3770_3776del (ESS2)