Canonical Allele Identifier: CA2737735318

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs2146084838

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132069del , CM000684.2:g.19132069del	GRCh38
NC_000022.10:g.19119582del , CM000684.1:g.19119582del	GRCh37
NC_000022.9:g.17499582del	NCBI36
NG_008320.1:g.17609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2127del (ESS2) MANE Select	ENSP00000252137.6:n.*2127del
ENST00000399635.4:c.670del (TSSK2) MANE Select	ENSP00000382544.2:p.Met224CysfsTer18
ENST00000252137.10:c.*2127del (ESS2)	ENSP00000252137.6:n.*2127del
ENST00000399635.3:c.670del (TSSK2)	ENSP00000382544.2:p.Met224CysfsTer18
NM_022719.2:c.*2127del (ESS2)	NP_073210.1:n.*2127del
NM_053006.4:c.670del (TSSK2)	NP_443732.3:p.Met224CysfsTer18
XM_005261282.3:c.*2127del (ESS2)	XP_005261339.1:n.*2127del
XM_006724329.2:c.*2127del (ESS2)	XP_006724392.1:n.*2127del
XM_006724330.2:c.*2127del (ESS2)	XP_006724393.1:n.*2127del
XM_006724331.2:c.*2127del (ESS2)	XP_006724394.1:n.*2127del
XR_937926.1:n.3516del (ESS2)
NR_134304.1:n.3672del (ESS2)
NM_022719.3:c.*2127del (ESS2) MANE Select	NP_073210.1:n.*2127del
NM_053006.5:c.670del (TSSK2) MANE Select	NP_443732.3:p.Met224CysfsTer18
NR_134304.2:n.3646del (ESS2)