Canonical Allele Identifier: CA2655248498

Gene: ESS2 TSSK2

Linked Data

• gnomAD v4: 22-19132568-C-CCTACCTGCCTACT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132568_19132569insCTACCTGCCTACT , CM000684.2:g.19132568_19132569insCTACCTGCCTACT	GRCh38
NC_000022.10:g.19120081_19120082insCTACCTGCCTACT , CM000684.1:g.19120081_19120082insCTACCTGCCTACT	GRCh37
NC_000022.9:g.17500081_17500082insCTACCTGCCTACT	NCBI36
NG_008320.1:g.17109_17110insAGTAGGCAGGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1627_*1628insAGTAGGCAGGTAG (ESS2) MANE Select	ENSP00000252137.6:n.*1627_*1628insAGTAGGCAGGTAG
ENST00000399635.4:c.*92_*93insCTACCTGCCTACT (TSSK2) MANE Select	ENSP00000382544.2:n.*92_*93insCTACCTGCCTACT
ENST00000252137.10:c.*1627_*1628insAGTAGGCAGGTAG (ESS2)	ENSP00000252137.6:n.*1627_*1628insAGTAGGCAGGTAG
ENST00000399635.3:c.*92_*93insCTACCTGCCTACT (TSSK2)	ENSP00000382544.2:n.*92_*93insCTACCTGCCTACT
NM_022719.2:c.*1627_*1628insAGTAGGCAGGTAG (ESS2)	NP_073210.1:n.*1627_*1628insAGTAGGCAGGTAG
NM_053006.4:c.*92_*93insCTACCTGCCTACT (TSSK2)	NP_443732.3:n.*92_*93insCTACCTGCCTACT
XM_005261282.3:c.*1627_*1628insAGTAGGCAGGTAG (ESS2)	XP_005261339.1:n.*1627_*1628insAGTAGGCAGGTAG
XM_006724329.2:c.*1627_*1628insAGTAGGCAGGTAG (ESS2)	XP_006724392.1:n.*1627_*1628insAGTAGGCAGGTAG
XM_006724330.2:c.*1627_*1628insAGTAGGCAGGTAG (ESS2)	XP_006724393.1:n.*1627_*1628insAGTAGGCAGGTAG
XM_006724331.2:c.*1627_*1628insAGTAGGCAGGTAG (ESS2)	XP_006724394.1:n.*1627_*1628insAGTAGGCAGGTAG
XR_937926.1:n.3016_3017insAGTAGGCAGGTAG (ESS2)
NR_134304.1:n.3172_3173insAGTAGGCAGGTAG (ESS2)
NM_022719.3:c.*1627_*1628insAGTAGGCAGGTAG (ESS2) MANE Select	NP_073210.1:n.*1627_*1628insAGTAGGCAGGTAG
NM_053006.5:c.*92_*93insCTACCTGCCTACT (TSSK2) MANE Select	NP_443732.3:n.*92_*93insCTACCTGCCTACT
NR_134304.2:n.3146_3147insAGTAGGCAGGTAG (ESS2)