Canonical Allele Identifier: CA2395734492

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131700_19131703delinsTTCA , CM000684.2:g.19131700_19131703delinsTTCA	GRCh38
NC_000022.10:g.19119213_19119216delinsTTCA , CM000684.1:g.19119213_19119216delinsTTCA	GRCh37
NC_000022.9:g.17499213_17499216delinsTTCA	NCBI36
NG_008320.1:g.17975_17978delinsTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2493_*2496delinsTGAA (ESS2) MANE Select	ENSP00000252137.6:n.*2493_*2496delinsTGAA
ENST00000399635.4:c.301_304delinsTTCA (TSSK2) MANE Select	ENSP00000382544.2:p.Phe101=
ENST00000252137.10:c.*2493_*2496delinsTGAA (ESS2)	ENSP00000252137.6:n.*2493_*2496delinsTGAA
ENST00000399635.3:c.301_304delinsTTCA (TSSK2)	ENSP00000382544.2:p.Phe101=
NM_022719.2:c.*2493_*2496delinsTGAA (ESS2)	NP_073210.1:n.*2493_*2496delinsTGAA
NM_053006.4:c.301_304delinsTTCA (TSSK2)	NP_443732.3:p.Phe101=
XM_005261282.3:c.*2493_*2496delinsTGAA (ESS2)	XP_005261339.1:n.*2493_*2496delinsTGAA
XM_006724329.2:c.*2493_*2496delinsTGAA (ESS2)	XP_006724392.1:n.*2493_*2496delinsTGAA
XM_006724330.2:c.*2493_*2496delinsTGAA (ESS2)	XP_006724393.1:n.*2493_*2496delinsTGAA
XM_006724331.2:c.*2493_*2496delinsTGAA (ESS2)	XP_006724394.1:n.*2493_*2496delinsTGAA
XR_937926.1:n.3882_3885delinsTGAA (ESS2)
NR_134304.1:n.4038_4041delinsTGAA (ESS2)
NM_022719.3:c.*2493_*2496delinsTGAA (ESS2) MANE Select	NP_073210.1:n.*2493_*2496delinsTGAA
NM_053006.5:c.301_304delinsTTCA (TSSK2) MANE Select	NP_443732.3:p.Phe101=
NR_134304.2:n.4012_4015delinsTGAA (ESS2)