Canonical Allele Identifier: CA2655248257

Gene: ESS2 TSSK2

Linked Data

• gnomAD v4: 22-19132237-A-ACGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132239_19132241dup , CM000684.2:g.19132239_19132241dup	GRCh38
NC_000022.10:g.19119752_19119754dup , CM000684.1:g.19119752_19119754dup	GRCh37
NC_000022.9:g.17499752_17499754dup	NCBI36
NG_008320.1:g.17438_17440dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1956_*1958dup (ESS2) MANE Select	ENSP00000252137.6:n.*1956_*1958dup
ENST00000399635.4:c.840_842dup (TSSK2) MANE Select	ENSP00000382544.2:p.Ser281_Ser282insSer
ENST00000252137.10:c.*1956_*1958dup (ESS2)	ENSP00000252137.6:n.*1956_*1958dup
ENST00000399635.3:c.840_842dup (TSSK2)	ENSP00000382544.2:p.Ser281_Ser282insSer
NM_022719.2:c.*1956_*1958dup (ESS2)	NP_073210.1:n.*1956_*1958dup
NM_053006.4:c.840_842dup (TSSK2)	NP_443732.3:p.Ser281_Ser282insSer
XM_005261282.3:c.*1956_*1958dup (ESS2)	XP_005261339.1:n.*1956_*1958dup
XM_006724329.2:c.*1956_*1958dup (ESS2)	XP_006724392.1:n.*1956_*1958dup
XM_006724330.2:c.*1956_*1958dup (ESS2)	XP_006724393.1:n.*1956_*1958dup
XM_006724331.2:c.*1956_*1958dup (ESS2)	XP_006724394.1:n.*1956_*1958dup
XR_937926.1:n.3345_3347dup (ESS2)
NR_134304.1:n.3501_3503dup (ESS2)
NM_022719.3:c.*1956_*1958dup (ESS2) MANE Select	NP_073210.1:n.*1956_*1958dup
NM_053006.5:c.840_842dup (TSSK2) MANE Select	NP_443732.3:p.Ser281_Ser282insSer
NR_134304.2:n.3475_3477dup (ESS2)