Canonical Allele Identifier: CA638503021

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs1324017930
• gnomAD v2: 22-19119699-AT-A
• MyVariant Identifiers: chr22:g.19119700del (hg19) ; chr22:g.19132187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132187del , CM000684.2:g.19132187del	GRCh38
NC_000022.10:g.19119700del , CM000684.1:g.19119700del	GRCh37
NC_000022.9:g.17499700del	NCBI36
NG_008320.1:g.17491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2009del (ESS2) MANE Select	ENSP00000252137.6:n.*2009del
ENST00000399635.4:c.788del (TSSK2) MANE Select	ENSP00000382544.2:p.Ile263ThrfsTer?
ENST00000252137.10:c.*2009del (ESS2)	ENSP00000252137.6:n.*2009del
ENST00000399635.3:c.788del (TSSK2)	ENSP00000382544.2:p.Ile263ThrfsTer?
NM_022719.2:c.*2009del (ESS2)	NP_073210.1:n.*2009del
NM_053006.4:c.788del (TSSK2)	NP_443732.3:p.Ile263ThrfsTer?
XM_005261282.3:c.*2009del (ESS2)	XP_005261339.1:n.*2009del
XM_006724329.2:c.*2009del (ESS2)	XP_006724392.1:n.*2009del
XM_006724330.2:c.*2009del (ESS2)	XP_006724393.1:n.*2009del
XM_006724331.2:c.*2009del (ESS2)	XP_006724394.1:n.*2009del
XR_937926.1:n.3398del (ESS2)
NR_134304.1:n.3554del (ESS2)
NM_022719.3:c.*2009del (ESS2) MANE Select	NP_073210.1:n.*2009del
NM_053006.5:c.788del (TSSK2) MANE Select	NP_443732.3:p.Ile263ThrfsTer?
NR_134304.2:n.3528del (ESS2)