Canonical Allele Identifier: CA10096337

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs755889920
• ExAC: 22:19119264 C / T
• gnomAD v2: 22-19119264-C-T
• gnomAD v3: 22-19131751-C-T
• gnomAD v4: 22-19131751-C-T
• MyVariant Identifiers: chr22:g.19119264C>T (hg19) ; chr22:g.19131751C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131751C>T , CM000684.2:g.19131751C>T	GRCh38
NC_000022.10:g.19119264C>T , CM000684.1:g.19119264C>T	GRCh37
NC_000022.9:g.17499264C>T	NCBI36
NG_008320.1:g.17927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2445G>A (ESS2) MANE Select	ENSP00000252137.6:n.*2445G>A
ENST00000399635.4:c.352C>T (TSSK2) MANE Select	ENSP00000382544.2:p.Arg118Ter
ENST00000252137.10:c.*2445G>A (ESS2)	ENSP00000252137.6:n.*2445G>A
ENST00000399635.3:c.352C>T (TSSK2)	ENSP00000382544.2:p.Arg118Ter
NM_022719.2:c.*2445G>A (ESS2)	NP_073210.1:n.*2445G>A
NM_053006.4:c.352C>T (TSSK2)	NP_443732.3:p.Arg118Ter
XM_005261282.3:c.*2445G>A (ESS2)	XP_005261339.1:n.*2445G>A
XM_006724329.2:c.*2445G>A (ESS2)	XP_006724392.1:n.*2445G>A
XM_006724330.2:c.*2445G>A (ESS2)	XP_006724393.1:n.*2445G>A
XM_006724331.2:c.*2445G>A (ESS2)	XP_006724394.1:n.*2445G>A
XR_937926.1:n.3834G>A (ESS2)
NR_134304.1:n.3990G>A (ESS2)
NM_022719.3:c.*2445G>A (ESS2) MANE Select	NP_073210.1:n.*2445G>A
NM_053006.5:c.352C>T (TSSK2) MANE Select	NP_443732.3:p.Arg118Ter
NR_134304.2:n.3964G>A (ESS2)