Canonical Allele Identifier: CA10096395

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs776250553
• ExAC: 22:19119524 GATCCTGTAC / G
• gnomAD v2: 22-19119524-GATCCTGTAC-G
• gnomAD v3: 22-19132011-GATCCTGTAC-G
• gnomAD v4: 22-19132011-GATCCTGTAC-G
• MyVariant Identifiers: chr22:g.19119525_19119533del (hg19) ; chr22:g.19132012_19132020del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132015_19132023del , CM000684.2:g.19132015_19132023del	GRCh38
NC_000022.10:g.19119528_19119536del , CM000684.1:g.19119528_19119536del	GRCh37
NC_000022.9:g.17499528_17499536del	NCBI36
NG_008320.1:g.17658_17666del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2176_*2184del (ESS2) MANE Select	ENSP00000252137.6:n.*2176_*2184del
ENST00000399635.4:c.616_624del (TSSK2) MANE Select	ENSP00000382544.2:p.Leu206_Ile208del
ENST00000252137.10:c.*2176_*2184del (ESS2)	ENSP00000252137.6:n.*2176_*2184del
ENST00000399635.3:c.616_624del (TSSK2)	ENSP00000382544.2:p.Leu206_Ile208del
NM_022719.2:c.*2176_*2184del (ESS2)	NP_073210.1:n.*2176_*2184del
NM_053006.4:c.616_624del (TSSK2)	NP_443732.3:p.Leu206_Ile208del
XM_005261282.3:c.*2176_*2184del (ESS2)	XP_005261339.1:n.*2176_*2184del
XM_006724329.2:c.*2176_*2184del (ESS2)	XP_006724392.1:n.*2176_*2184del
XM_006724330.2:c.*2176_*2184del (ESS2)	XP_006724393.1:n.*2176_*2184del
XM_006724331.2:c.*2176_*2184del (ESS2)	XP_006724394.1:n.*2176_*2184del
XR_937926.1:n.3565_3573del (ESS2)
NR_134304.1:n.3721_3729del (ESS2)
NM_022719.3:c.*2176_*2184del (ESS2) MANE Select	NP_073210.1:n.*2176_*2184del
NM_053006.5:c.616_624del (TSSK2) MANE Select	NP_443732.3:p.Leu206_Ile208del
NR_134304.2:n.3695_3703del (ESS2)