Canonical Allele Identifier: CA10096335

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs777499145
• ExAC: 22:19119252 CG / C
• gnomAD v2: 22-19119252-CG-C
• gnomAD v4: 22-19131739-CG-C
• MyVariant Identifiers: chr22:g.19119253del (hg19) ; chr22:g.19131740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131740del , CM000684.2:g.19131740del	GRCh38
NC_000022.10:g.19119253del , CM000684.1:g.19119253del	GRCh37
NC_000022.9:g.17499253del	NCBI36
NG_008320.1:g.17938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2456del (ESS2) MANE Select	ENSP00000252137.6:n.*2456del
ENST00000399635.4:c.341del (TSSK2) MANE Select	ENSP00000382544.2:p.Arg114ProfsTer?
ENST00000252137.10:c.*2456del (ESS2)	ENSP00000252137.6:n.*2456del
ENST00000399635.3:c.341del (TSSK2)	ENSP00000382544.2:p.Arg114ProfsTer?
NM_022719.2:c.*2456del (ESS2)	NP_073210.1:n.*2456del
NM_053006.4:c.341del (TSSK2)	NP_443732.3:p.Arg114ProfsTer?
XM_005261282.3:c.*2456del (ESS2)	XP_005261339.1:n.*2456del
XM_006724329.2:c.*2456del (ESS2)	XP_006724392.1:n.*2456del
XM_006724330.2:c.*2456del (ESS2)	XP_006724393.1:n.*2456del
XM_006724331.2:c.*2456del (ESS2)	XP_006724394.1:n.*2456del
XR_937926.1:n.3845del (ESS2)
NR_134304.1:n.4001del (ESS2)
NM_022719.3:c.*2456del (ESS2) MANE Select	NP_073210.1:n.*2456del
NM_053006.5:c.341del (TSSK2) MANE Select	NP_443732.3:p.Arg114ProfsTer?
NR_134304.2:n.3975del (ESS2)