Canonical Allele Identifier: CA751429494

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs1251275154
• gnomAD v4: 22-19131700-TTCA-T
• MyVariant Identifiers: chr22:g.19119214_19119216del (hg19) ; chr22:g.19131701_19131703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131704_19131706del , CM000684.2:g.19131704_19131706del	GRCh38
NC_000022.10:g.19119217_19119219del , CM000684.1:g.19119217_19119219del	GRCh37
NC_000022.9:g.17499217_17499219del	NCBI36
NG_008320.1:g.17975_17977del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2493_*2495del (ESS2) MANE Select	ENSP00000252137.6:n.*2493_*2495del
ENST00000399635.4:c.305_307del (TSSK2) MANE Select	ENSP00000382544.2:p.Ile102del
ENST00000252137.10:c.*2493_*2495del (ESS2)	ENSP00000252137.6:n.*2493_*2495del
ENST00000399635.3:c.305_307del (TSSK2)	ENSP00000382544.2:p.Ile102del
NM_022719.2:c.*2493_*2495del (ESS2)	NP_073210.1:n.*2493_*2495del
NM_053006.4:c.305_307del (TSSK2)	NP_443732.3:p.Ile102del
XM_005261282.3:c.*2493_*2495del (ESS2)	XP_005261339.1:n.*2493_*2495del
XM_006724329.2:c.*2493_*2495del (ESS2)	XP_006724392.1:n.*2493_*2495del
XM_006724330.2:c.*2493_*2495del (ESS2)	XP_006724393.1:n.*2493_*2495del
XM_006724331.2:c.*2493_*2495del (ESS2)	XP_006724394.1:n.*2493_*2495del
XR_937926.1:n.3882_3884del (ESS2)
NR_134304.1:n.4038_4040del (ESS2)
NM_022719.3:c.*2493_*2495del (ESS2) MANE Select	NP_073210.1:n.*2493_*2495del
NM_053006.5:c.305_307del (TSSK2) MANE Select	NP_443732.3:p.Ile102del
NR_134304.2:n.4012_4014del (ESS2)