Canonical Allele Identifier: CA2395734626

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132011_19132020delinsGATCCTGTAC , CM000684.2:g.19132011_19132020delinsGATCCTGTAC	GRCh38
NC_000022.10:g.19119524_19119533delinsGATCCTGTAC , CM000684.1:g.19119524_19119533delinsGATCCTGTAC	GRCh37
NC_000022.9:g.17499524_17499533delinsGATCCTGTAC	NCBI36
NG_008320.1:g.17658_17667delinsGTACAGGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2176_*2185delinsGTACAGGATC (ESS2) MANE Select	ENSP00000252137.6:n.*2176_*2185delinsGTACAGGATC
ENST00000399635.4:c.612_621delinsGATCCTGTAC (TSSK2) MANE Select	ENSP00000382544.2:p.Val204=
ENST00000252137.10:c.*2176_*2185delinsGTACAGGATC (ESS2)	ENSP00000252137.6:n.*2176_*2185delinsGTACAGGATC
ENST00000399635.3:c.612_621delinsGATCCTGTAC (TSSK2)	ENSP00000382544.2:p.Val204=
NM_022719.2:c.*2176_*2185delinsGTACAGGATC (ESS2)	NP_073210.1:n.*2176_*2185delinsGTACAGGATC
NM_053006.4:c.612_621delinsGATCCTGTAC (TSSK2)	NP_443732.3:p.Val204=
XM_005261282.3:c.*2176_*2185delinsGTACAGGATC (ESS2)	XP_005261339.1:n.*2176_*2185delinsGTACAGGATC
XM_006724329.2:c.*2176_*2185delinsGTACAGGATC (ESS2)	XP_006724392.1:n.*2176_*2185delinsGTACAGGATC
XM_006724330.2:c.*2176_*2185delinsGTACAGGATC (ESS2)	XP_006724393.1:n.*2176_*2185delinsGTACAGGATC
XM_006724331.2:c.*2176_*2185delinsGTACAGGATC (ESS2)	XP_006724394.1:n.*2176_*2185delinsGTACAGGATC
XR_937926.1:n.3565_3574delinsGTACAGGATC (ESS2)
NR_134304.1:n.3721_3730delinsGTACAGGATC (ESS2)
NM_022719.3:c.*2176_*2185delinsGTACAGGATC (ESS2) MANE Select	NP_073210.1:n.*2176_*2185delinsGTACAGGATC
NM_053006.5:c.612_621delinsGATCCTGTAC (TSSK2) MANE Select	NP_443732.3:p.Val204=
NR_134304.2:n.3695_3704delinsGTACAGGATC (ESS2)