Canonical Allele Identifier: CA10096412

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs746639993
• ExAC: 22:19119594 CAGA / C
• gnomAD v2: 22-19119594-CAGA-C
• gnomAD v3: 22-19132081-CAGA-C
• gnomAD v4: 22-19132081-CAGA-C
• MyVariant Identifiers: chr22:g.19119595_19119597del (hg19) ; chr22:g.19132083_19132085del (hg38) ; chr22:g.19132082_19132084del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132084_19132086del , CM000684.2:g.19132084_19132086del	GRCh38
NC_000022.10:g.19119597_19119599del , CM000684.1:g.19119597_19119599del	GRCh37
NC_000022.9:g.17499597_17499599del	NCBI36
NG_008320.1:g.17594_17596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2112_*2114del (ESS2) MANE Select	ENSP00000252137.6:n.*2112_*2114del
ENST00000399635.4:c.685_687del (TSSK2) MANE Select	ENSP00000382544.2:p.Lys229del
ENST00000252137.10:c.*2112_*2114del (ESS2)	ENSP00000252137.6:n.*2112_*2114del
ENST00000399635.3:c.685_687del (TSSK2)	ENSP00000382544.2:p.Lys229del
NM_022719.2:c.*2112_*2114del (ESS2)	NP_073210.1:n.*2112_*2114del
NM_053006.4:c.685_687del (TSSK2)	NP_443732.3:p.Lys229del
XM_005261282.3:c.*2112_*2114del (ESS2)	XP_005261339.1:n.*2112_*2114del
XM_006724329.2:c.*2112_*2114del (ESS2)	XP_006724392.1:n.*2112_*2114del
XM_006724330.2:c.*2112_*2114del (ESS2)	XP_006724393.1:n.*2112_*2114del
XM_006724331.2:c.*2112_*2114del (ESS2)	XP_006724394.1:n.*2112_*2114del
XR_937926.1:n.3501_3503del (ESS2)
NR_134304.1:n.3657_3659del (ESS2)
NM_022719.3:c.*2112_*2114del (ESS2) MANE Select	NP_073210.1:n.*2112_*2114del
NM_053006.5:c.685_687del (TSSK2) MANE Select	NP_443732.3:p.Lys229del
NR_134304.2:n.3631_3633del (ESS2)