Canonical Allele Identifier: CA321365188

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs34029289
• MyVariant Identifiers: chr22:g.19120000_19120001insT (hg19) ; chr22:g.19132487_19132488insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132487_19132488insT , CM000684.2:g.19132487_19132488insT	GRCh38
NC_000022.10:g.19120000_19120001insT , CM000684.1:g.19120000_19120001insT	GRCh37
NC_000022.9:g.17500000_17500001insT	NCBI36
NG_008320.1:g.17190_17191insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1708_*1709insA (ESS2) MANE Select	ENSP00000252137.6:n.*1708_*1709insA
ENST00000399635.4:c.*11_*12insT (TSSK2) MANE Select	ENSP00000382544.2:n.*11_*12insT
ENST00000252137.10:c.*1708_*1709insA (ESS2)	ENSP00000252137.6:n.*1708_*1709insA
ENST00000399635.3:c.*11_*12insT (TSSK2)	ENSP00000382544.2:n.*11_*12insT
NM_022719.2:c.*1708_*1709insA (ESS2)	NP_073210.1:n.*1708_*1709insA
NM_053006.4:c.*11_*12insT (TSSK2)	NP_443732.3:n.*11_*12insT
XM_005261282.3:c.*1708_*1709insA (ESS2)	XP_005261339.1:n.*1708_*1709insA
XM_006724329.2:c.*1708_*1709insA (ESS2)	XP_006724392.1:n.*1708_*1709insA
XM_006724330.2:c.*1708_*1709insA (ESS2)	XP_006724393.1:n.*1708_*1709insA
XM_006724331.2:c.*1708_*1709insA (ESS2)	XP_006724394.1:n.*1708_*1709insA
XR_937926.1:n.3097_3098insA (ESS2)
NR_134304.1:n.3253_3254insA (ESS2)
NM_022719.3:c.*1708_*1709insA (ESS2) MANE Select	NP_073210.1:n.*1708_*1709insA
NM_053006.5:c.*11_*12insT (TSSK2) MANE Select	NP_443732.3:n.*11_*12insT
NR_134304.2:n.3227_3228insA (ESS2)