Canonical Allele Identifier: CA1024078588

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs2083510839
• gnomAD v3: 22-19131825-TCTC-T
• gnomAD v4: 22-19131825-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131829_19131831del , CM000684.2:g.19131829_19131831del	GRCh38
NC_000022.10:g.19119342_19119344del , CM000684.1:g.19119342_19119344del	GRCh37
NC_000022.9:g.17499342_17499344del	NCBI36
NG_008320.1:g.17850_17852del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2368_*2370del (ESS2) MANE Select	ENSP00000252137.6:n.*2368_*2370del
ENST00000399635.4:c.430_432del (TSSK2) MANE Select	ENSP00000382544.2:p.Leu144del
ENST00000252137.10:c.*2368_*2370del (ESS2)	ENSP00000252137.6:n.*2368_*2370del
ENST00000399635.3:c.430_432del (TSSK2)	ENSP00000382544.2:p.Leu144del
NM_022719.2:c.*2368_*2370del (ESS2)	NP_073210.1:n.*2368_*2370del
NM_053006.4:c.430_432del (TSSK2)	NP_443732.3:p.Leu144del
XM_005261282.3:c.*2368_*2370del (ESS2)	XP_005261339.1:n.*2368_*2370del
XM_006724329.2:c.*2368_*2370del (ESS2)	XP_006724392.1:n.*2368_*2370del
XM_006724330.2:c.*2368_*2370del (ESS2)	XP_006724393.1:n.*2368_*2370del
XM_006724331.2:c.*2368_*2370del (ESS2)	XP_006724394.1:n.*2368_*2370del
XR_937926.1:n.3757_3759del (ESS2)
NR_134304.1:n.3913_3915del (ESS2)
NM_022719.3:c.*2368_*2370del (ESS2) MANE Select	NP_073210.1:n.*2368_*2370del
NM_053006.5:c.430_432del (TSSK2) MANE Select	NP_443732.3:p.Leu144del
NR_134304.2:n.3887_3889del (ESS2)