Canonical Allele Identifier: CA10096416

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs763372450
• ExAC: 22:19119608 T / TGTGGA
• gnomAD v2: 22-19119608-T-TGTGGA
• gnomAD v4: 22-19132095-T-TGTGGA
• MyVariant Identifiers: chr22:g.19119608_19119609insGTGGA (hg19) ; chr22:g.19132095_19132096insGTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132096_19132100dup , CM000684.2:g.19132096_19132100dup	GRCh38
NC_000022.10:g.19119609_19119613dup , CM000684.1:g.19119609_19119613dup	GRCh37
NC_000022.9:g.17499609_17499613dup	NCBI36
NG_008320.1:g.17578_17582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2096_*2100dup (ESS2) MANE Select	ENSP00000252137.6:n.*2096_*2100dup
ENST00000399635.4:c.697_701dup (TSSK2) MANE Select	ENSP00000382544.2:p.Asp234GlufsTer10
ENST00000252137.10:c.*2096_*2100dup (ESS2)	ENSP00000252137.6:n.*2096_*2100dup
ENST00000399635.3:c.697_701dup (TSSK2)	ENSP00000382544.2:p.Asp234GlufsTer10
NM_022719.2:c.*2096_*2100dup (ESS2)	NP_073210.1:n.*2096_*2100dup
NM_053006.4:c.697_701dup (TSSK2)	NP_443732.3:p.Asp234GlufsTer10
XM_005261282.3:c.*2096_*2100dup (ESS2)	XP_005261339.1:n.*2096_*2100dup
XM_006724329.2:c.*2096_*2100dup (ESS2)	XP_006724392.1:n.*2096_*2100dup
XM_006724330.2:c.*2096_*2100dup (ESS2)	XP_006724393.1:n.*2096_*2100dup
XM_006724331.2:c.*2096_*2100dup (ESS2)	XP_006724394.1:n.*2096_*2100dup
XR_937926.1:n.3485_3489dup (ESS2)
NR_134304.1:n.3641_3645dup (ESS2)
NM_022719.3:c.*2096_*2100dup (ESS2) MANE Select	NP_073210.1:n.*2096_*2100dup
NM_053006.5:c.697_701dup (TSSK2) MANE Select	NP_443732.3:p.Asp234GlufsTer10
NR_134304.2:n.3615_3619dup (ESS2)