Canonical Allele Identifier: CA2395734662

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132081_19132084delinsCAGA , CM000684.2:g.19132081_19132084delinsCAGA	GRCh38
NC_000022.10:g.19119594_19119597delinsCAGA , CM000684.1:g.19119594_19119597delinsCAGA	GRCh37
NC_000022.9:g.17499594_17499597delinsCAGA	NCBI36
NG_008320.1:g.17594_17597delinsTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2112_*2115delinsTCTG (ESS2) MANE Select	ENSP00000252137.6:n.*2112_*2115delinsTCTG
ENST00000399635.4:c.682_685delinsCAGA (TSSK2) MANE Select	ENSP00000382544.2:p.Gln228=
ENST00000252137.10:c.*2112_*2115delinsTCTG (ESS2)	ENSP00000252137.6:n.*2112_*2115delinsTCTG
ENST00000399635.3:c.682_685delinsCAGA (TSSK2)	ENSP00000382544.2:p.Gln228=
NM_022719.2:c.*2112_*2115delinsTCTG (ESS2)	NP_073210.1:n.*2112_*2115delinsTCTG
NM_053006.4:c.682_685delinsCAGA (TSSK2)	NP_443732.3:p.Gln228=
XM_005261282.3:c.*2112_*2115delinsTCTG (ESS2)	XP_005261339.1:n.*2112_*2115delinsTCTG
XM_006724329.2:c.*2112_*2115delinsTCTG (ESS2)	XP_006724392.1:n.*2112_*2115delinsTCTG
XM_006724330.2:c.*2112_*2115delinsTCTG (ESS2)	XP_006724393.1:n.*2112_*2115delinsTCTG
XM_006724331.2:c.*2112_*2115delinsTCTG (ESS2)	XP_006724394.1:n.*2112_*2115delinsTCTG
XR_937926.1:n.3501_3504delinsTCTG (ESS2)
NR_134304.1:n.3657_3660delinsTCTG (ESS2)
NM_022719.3:c.*2112_*2115delinsTCTG (ESS2) MANE Select	NP_073210.1:n.*2112_*2115delinsTCTG
NM_053006.5:c.682_685delinsCAGA (TSSK2) MANE Select	NP_443732.3:p.Gln228=
NR_134304.2:n.3631_3634delinsTCTG (ESS2)