Canonical Allele Identifier: CA2395734737

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132235_19132237delinsCCA , CM000684.2:g.19132235_19132237delinsCCA	GRCh38
NC_000022.10:g.19119748_19119750delinsCCA , CM000684.1:g.19119748_19119750delinsCCA	GRCh37
NC_000022.9:g.17499748_17499750delinsCCA	NCBI36
NG_008320.1:g.17441_17443delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1959_*1961delinsTGG (ESS2) MANE Select	ENSP00000252137.6:n.*1959_*1961delinsTGG
ENST00000399635.4:c.836_838delinsCCA (TSSK2) MANE Select	ENSP00000382544.2:p.Ala279=
ENST00000252137.10:c.*1959_*1961delinsTGG (ESS2)	ENSP00000252137.6:n.*1959_*1961delinsTGG
ENST00000399635.3:c.836_838delinsCCA (TSSK2)	ENSP00000382544.2:p.Ala279=
NM_022719.2:c.*1959_*1961delinsTGG (ESS2)	NP_073210.1:n.*1959_*1961delinsTGG
NM_053006.4:c.836_838delinsCCA (TSSK2)	NP_443732.3:p.Ala279=
XM_005261282.3:c.*1959_*1961delinsTGG (ESS2)	XP_005261339.1:n.*1959_*1961delinsTGG
XM_006724329.2:c.*1959_*1961delinsTGG (ESS2)	XP_006724392.1:n.*1959_*1961delinsTGG
XM_006724330.2:c.*1959_*1961delinsTGG (ESS2)	XP_006724393.1:n.*1959_*1961delinsTGG
XM_006724331.2:c.*1959_*1961delinsTGG (ESS2)	XP_006724394.1:n.*1959_*1961delinsTGG
XR_937926.1:n.3348_3350delinsTGG (ESS2)
NR_134304.1:n.3504_3506delinsTGG (ESS2)
NM_022719.3:c.*1959_*1961delinsTGG (ESS2) MANE Select	NP_073210.1:n.*1959_*1961delinsTGG
NM_053006.5:c.836_838delinsCCA (TSSK2) MANE Select	NP_443732.3:p.Ala279=
NR_134304.2:n.3478_3480delinsTGG (ESS2)