Canonical Allele Identifier: CA2655248347

Gene: ESS2 TSSK2

Linked Data

• gnomAD v4: 22-19132389-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132391del , CM000684.2:g.19132391del	GRCh38
NC_000022.10:g.19119904del , CM000684.1:g.19119904del	GRCh37
NC_000022.9:g.17499904del	NCBI36
NG_008320.1:g.17288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1806del (ESS2) MANE Select	ENSP00000252137.6:n.*1806del
ENST00000399635.4:c.992del (TSSK2) MANE Select	ENSP00000382544.2:p.Asn331ThrfsTer?
ENST00000252137.10:c.*1806del (ESS2)	ENSP00000252137.6:n.*1806del
ENST00000399635.3:c.992del (TSSK2)	ENSP00000382544.2:p.Asn331ThrfsTer?
NM_022719.2:c.*1806del (ESS2)	NP_073210.1:n.*1806del
NM_053006.4:c.992del (TSSK2)	NP_443732.3:p.Asn331ThrfsTer?
XM_005261282.3:c.*1806del (ESS2)	XP_005261339.1:n.*1806del
XM_006724329.2:c.*1806del (ESS2)	XP_006724392.1:n.*1806del
XM_006724330.2:c.*1806del (ESS2)	XP_006724393.1:n.*1806del
XM_006724331.2:c.*1806del (ESS2)	XP_006724394.1:n.*1806del
XR_937926.1:n.3195del (ESS2)
NR_134304.1:n.3351del (ESS2)
NM_022719.3:c.*1806del (ESS2) MANE Select	NP_073210.1:n.*1806del
NM_053006.5:c.992del (TSSK2) MANE Select	NP_443732.3:p.Asn331ThrfsTer?
NR_134304.2:n.3325del (ESS2)