Canonical Allele Identifier: CA10096451

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs774634166
• ExAC: 22:19119748 CCA / C
• gnomAD v2: 22-19119748-CCA-C
• gnomAD v4: 22-19132235-CCA-C
• MyVariant Identifiers: chr22:g.19119749_19119750del (hg19) ; chr22:g.19132236_19132237del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132237_19132238del , CM000684.2:g.19132237_19132238del	GRCh38
NC_000022.10:g.19119750_19119751del , CM000684.1:g.19119750_19119751del	GRCh37
NC_000022.9:g.17499750_17499751del	NCBI36
NG_008320.1:g.17441_17442del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252137.11:c.*1959_*1960del (ESS2) MANE Select	ENSP00000252137.6:n.*1959_*1960del
ENST00000399635.4:c.838_839del (TSSK2) MANE Select	ENSP00000382544.2:p.Thr280ValfsTer16
ENST00000252137.10:c.*1959_*1960del (ESS2)	ENSP00000252137.6:n.*1959_*1960del
ENST00000399635.3:c.838_839del (TSSK2)	ENSP00000382544.2:p.Thr280ValfsTer16
NM_022719.2:c.*1959_*1960del (ESS2)	NP_073210.1:n.*1959_*1960del
NM_053006.4:c.838_839del (TSSK2)	NP_443732.3:p.Thr280ValfsTer16
XM_005261282.3:c.*1959_*1960del (ESS2)	XP_005261339.1:n.*1959_*1960del
XM_006724329.2:c.*1959_*1960del (ESS2)	XP_006724392.1:n.*1959_*1960del
XM_006724330.2:c.*1959_*1960del (ESS2)	XP_006724393.1:n.*1959_*1960del
XM_006724331.2:c.*1959_*1960del (ESS2)	XP_006724394.1:n.*1959_*1960del
XR_937926.1:n.3348_3349del (ESS2)
NR_134304.1:n.3504_3505del (ESS2)
NM_022719.3:c.*1959_*1960del (ESS2) MANE Select	NP_073210.1:n.*1959_*1960del
NM_053006.5:c.838_839del (TSSK2) MANE Select	NP_443732.3:p.Thr280ValfsTer16
NR_134304.2:n.3478_3479del (ESS2)