Canonical Allele Identifier: CA2395734549

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131825_19131828delinsTCTC , CM000684.2:g.19131825_19131828delinsTCTC	GRCh38
NC_000022.10:g.19119338_19119341delinsTCTC , CM000684.1:g.19119338_19119341delinsTCTC	GRCh37
NC_000022.9:g.17499338_17499341delinsTCTC	NCBI36
NG_008320.1:g.17850_17853delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2368_*2371delinsGAGA (ESS2) MANE Select	ENSP00000252137.6:n.*2368_*2371delinsGAGA
ENST00000399635.4:c.426_429delinsTCTC (TSSK2) MANE Select	ENSP00000382544.2:p.Leu142=
ENST00000252137.10:c.*2368_*2371delinsGAGA (ESS2)	ENSP00000252137.6:n.*2368_*2371delinsGAGA
ENST00000399635.3:c.426_429delinsTCTC (TSSK2)	ENSP00000382544.2:p.Leu142=
NM_022719.2:c.*2368_*2371delinsGAGA (ESS2)	NP_073210.1:n.*2368_*2371delinsGAGA
NM_053006.4:c.426_429delinsTCTC (TSSK2)	NP_443732.3:p.Leu142=
XM_005261282.3:c.*2368_*2371delinsGAGA (ESS2)	XP_005261339.1:n.*2368_*2371delinsGAGA
XM_006724329.2:c.*2368_*2371delinsGAGA (ESS2)	XP_006724392.1:n.*2368_*2371delinsGAGA
XM_006724330.2:c.*2368_*2371delinsGAGA (ESS2)	XP_006724393.1:n.*2368_*2371delinsGAGA
XM_006724331.2:c.*2368_*2371delinsGAGA (ESS2)	XP_006724394.1:n.*2368_*2371delinsGAGA
XR_937926.1:n.3757_3760delinsGAGA (ESS2)
NR_134304.1:n.3913_3916delinsGAGA (ESS2)
NM_022719.3:c.*2368_*2371delinsGAGA (ESS2) MANE Select	NP_073210.1:n.*2368_*2371delinsGAGA
NM_053006.5:c.426_429delinsTCTC (TSSK2) MANE Select	NP_443732.3:p.Leu142=
NR_134304.2:n.3887_3890delinsGAGA (ESS2)