Canonical Allele Identifier: CA10096357

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs746661706
• ExAC: 22:19119365 GCTGT / G
• gnomAD v2: 22-19119365-GCTGT-G
• gnomAD v4: 22-19131852-GCTGT-G
• MyVariant Identifiers: chr22:g.19119366_19119369del (hg19) ; chr22:g.19131854_19131857del (hg38) ; chr22:g.19131853_19131856del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131856_19131859del , CM000684.2:g.19131856_19131859del	GRCh38
NC_000022.10:g.19119369_19119372del , CM000684.1:g.19119369_19119372del	GRCh37
NC_000022.9:g.17499369_17499372del	NCBI36
NG_008320.1:g.17822_17825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2340_*2343del (ESS2) MANE Select	ENSP00000252137.6:n.*2340_*2343del
ENST00000399635.4:c.457_460del (TSSK2) MANE Select	ENSP00000382544.2:p.Ser153ThrfsTer?
ENST00000252137.10:c.*2340_*2343del (ESS2)	ENSP00000252137.6:n.*2340_*2343del
ENST00000399635.3:c.457_460del (TSSK2)	ENSP00000382544.2:p.Ser153ThrfsTer?
NM_022719.2:c.*2340_*2343del (ESS2)	NP_073210.1:n.*2340_*2343del
NM_053006.4:c.457_460del (TSSK2)	NP_443732.3:p.Ser153ThrfsTer?
XM_005261282.3:c.*2340_*2343del (ESS2)	XP_005261339.1:n.*2340_*2343del
XM_006724329.2:c.*2340_*2343del (ESS2)	XP_006724392.1:n.*2340_*2343del
XM_006724330.2:c.*2340_*2343del (ESS2)	XP_006724393.1:n.*2340_*2343del
XM_006724331.2:c.*2340_*2343del (ESS2)	XP_006724394.1:n.*2340_*2343del
XR_937926.1:n.3729_3732del (ESS2)
NR_134304.1:n.3885_3888del (ESS2)
NM_022719.3:c.*2340_*2343del (ESS2) MANE Select	NP_073210.1:n.*2340_*2343del
NM_053006.5:c.457_460del (TSSK2) MANE Select	NP_443732.3:p.Ser153ThrfsTer?
NR_134304.2:n.3859_3862del (ESS2)