Canonical Allele Identifier: CA10096413

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs776082189
• ExAC: 22:19119600 G / GT
• gnomAD v2: 22-19119600-G-GT
• gnomAD v3: 22-19132087-G-GT
• gnomAD v4: 22-19132087-G-GT
• MyVariant Identifiers: chr22:g.19119600_19119601insT (hg19) ; chr22:g.19132087_19132088insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132087_19132088insT , CM000684.2:g.19132087_19132088insT	GRCh38
NC_000022.10:g.19119600_19119601insT , CM000684.1:g.19119600_19119601insT	GRCh37
NC_000022.9:g.17499600_17499601insT	NCBI36
NG_008320.1:g.17590_17591insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2108_*2109insA (ESS2) MANE Select	ENSP00000252137.6:n.*2108_*2109insA
ENST00000399635.4:c.688_689insT (TSSK2) MANE Select	ENSP00000382544.2:p.Glu230ValfsTer?
ENST00000252137.10:c.*2108_*2109insA (ESS2)	ENSP00000252137.6:n.*2108_*2109insA
ENST00000399635.3:c.688_689insT (TSSK2)	ENSP00000382544.2:p.Glu230ValfsTer?
NM_022719.2:c.*2108_*2109insA (ESS2)	NP_073210.1:n.*2108_*2109insA
NM_053006.4:c.688_689insT (TSSK2)	NP_443732.3:p.Glu230ValfsTer?
XM_005261282.3:c.*2108_*2109insA (ESS2)	XP_005261339.1:n.*2108_*2109insA
XM_006724329.2:c.*2108_*2109insA (ESS2)	XP_006724392.1:n.*2108_*2109insA
XM_006724330.2:c.*2108_*2109insA (ESS2)	XP_006724393.1:n.*2108_*2109insA
XM_006724331.2:c.*2108_*2109insA (ESS2)	XP_006724394.1:n.*2108_*2109insA
XR_937926.1:n.3497_3498insA (ESS2)
NR_134304.1:n.3653_3654insA (ESS2)
NM_022719.3:c.*2108_*2109insA (ESS2) MANE Select	NP_073210.1:n.*2108_*2109insA
NM_053006.5:c.688_689insT (TSSK2) MANE Select	NP_443732.3:p.Glu230ValfsTer?
NR_134304.2:n.3627_3628insA (ESS2)