Canonical Allele Identifier: CA1024079143

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs2083520445
• gnomAD v3: 22-19132502-GT-G
• gnomAD v4: 22-19132502-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132503del , CM000684.2:g.19132503del	GRCh38
NC_000022.10:g.19120016del , CM000684.1:g.19120016del	GRCh37
NC_000022.9:g.17500016del	NCBI36
NG_008320.1:g.17175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1693del (ESS2) MANE Select	ENSP00000252137.6:n.*1693del
ENST00000399635.4:c.*27del (TSSK2) MANE Select	ENSP00000382544.2:n.*27del
ENST00000252137.10:c.*1693del (ESS2)	ENSP00000252137.6:n.*1693del
ENST00000399635.3:c.*27del (TSSK2)	ENSP00000382544.2:n.*27del
NM_022719.2:c.*1693del (ESS2)	NP_073210.1:n.*1693del
NM_053006.4:c.*27del (TSSK2)	NP_443732.3:n.*27del
XM_005261282.3:c.*1693del (ESS2)	XP_005261339.1:n.*1693del
XM_006724329.2:c.*1693del (ESS2)	XP_006724392.1:n.*1693del
XM_006724330.2:c.*1693del (ESS2)	XP_006724393.1:n.*1693del
XM_006724331.2:c.*1693del (ESS2)	XP_006724394.1:n.*1693del
XR_937926.1:n.3082del (ESS2)
NR_134304.1:n.3238del (ESS2)
NM_022719.3:c.*1693del (ESS2) MANE Select	NP_073210.1:n.*1693del
NM_053006.5:c.*27del (TSSK2) MANE Select	NP_443732.3:n.*27del
NR_134304.2:n.3212del (ESS2)