Canonical Allele Identifier: CA2577642525

Gene: ESS2 TSSK2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131846_19131851del , CM000684.2:g.19131846_19131851del	GRCh38
NC_000022.10:g.19119359_19119364del , CM000684.1:g.19119359_19119364del	GRCh37
NC_000022.9:g.17499359_17499364del	NCBI36
NG_008320.1:g.17831_17836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2349_*2354del (ESS2) MANE Select	ENSP00000252137.6:n.*2349_*2354del
ENST00000399635.4:c.447_452del (TSSK2) MANE Select	ENSP00000382544.2:p.Asn149_Ile150del
ENST00000252137.10:c.*2349_*2354del (ESS2)	ENSP00000252137.6:n.*2349_*2354del
ENST00000399635.3:c.447_452del (TSSK2)	ENSP00000382544.2:p.Asn149_Ile150del
NM_022719.2:c.*2349_*2354del (ESS2)	NP_073210.1:n.*2349_*2354del
NM_053006.4:c.447_452del (TSSK2)	NP_443732.3:p.Asn149_Ile150del
XM_005261282.3:c.*2349_*2354del (ESS2)	XP_005261339.1:n.*2349_*2354del
XM_006724329.2:c.*2349_*2354del (ESS2)	XP_006724392.1:n.*2349_*2354del
XM_006724330.2:c.*2349_*2354del (ESS2)	XP_006724393.1:n.*2349_*2354del
XM_006724331.2:c.*2349_*2354del (ESS2)	XP_006724394.1:n.*2349_*2354del
XR_937926.1:n.3738_3743del (ESS2)
NR_134304.1:n.3894_3899del (ESS2)
NM_022719.3:c.*2349_*2354del (ESS2) MANE Select	NP_073210.1:n.*2349_*2354del
NM_053006.5:c.447_452del (TSSK2) MANE Select	NP_443732.3:p.Asn149_Ile150del
NR_134304.2:n.3868_3873del (ESS2)