Canonical Allele Identifier: CA2577642530

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs750671644
• gnomAD v4: 22-19132516-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132522del , CM000684.2:g.19132522del	GRCh38
NC_000022.10:g.19120035del , CM000684.1:g.19120035del	GRCh37
NC_000022.9:g.17500035del	NCBI36
NG_008320.1:g.17161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1679del (ESS2) MANE Select	ENSP00000252137.6:n.*1679del
ENST00000399635.4:c.*46del (TSSK2) MANE Select	ENSP00000382544.2:n.*46del
ENST00000252137.10:c.*1679del (ESS2)	ENSP00000252137.6:n.*1679del
ENST00000399635.3:c.*46del (TSSK2)	ENSP00000382544.2:n.*46del
NM_022719.2:c.*1679del (ESS2)	NP_073210.1:n.*1679del
NM_053006.4:c.*46del (TSSK2)	NP_443732.3:n.*46del
XM_005261282.3:c.*1679del (ESS2)	XP_005261339.1:n.*1679del
XM_006724329.2:c.*1679del (ESS2)	XP_006724392.1:n.*1679del
XM_006724330.2:c.*1679del (ESS2)	XP_006724393.1:n.*1679del
XM_006724331.2:c.*1679del (ESS2)	XP_006724394.1:n.*1679del
XR_937926.1:n.3068del (ESS2)
NR_134304.1:n.3224del (ESS2)
NM_022719.3:c.*1679del (ESS2) MANE Select	NP_073210.1:n.*1679del
NM_053006.5:c.*46del (TSSK2) MANE Select	NP_443732.3:n.*46del
NR_134304.2:n.3198del (ESS2)