Canonical Allele Identifier: CA10096341

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs778238329
• ExAC: 22:19119280 C / T
• gnomAD v2: 22-19119280-C-T
• gnomAD v4: 22-19131767-C-T
• MyVariant Identifiers: chr22:g.19119280C>T (hg19) ; chr22:g.19131767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131767C>T , CM000684.2:g.19131767C>T	GRCh38
NC_000022.10:g.19119280C>T , CM000684.1:g.19119280C>T	GRCh37
NC_000022.9:g.17499280C>T	NCBI36
NG_008320.1:g.17911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2429G>A (ESS2) MANE Select	ENSP00000252137.6:n.*2429G>A
ENST00000399635.4:c.368C>T (TSSK2) MANE Select	ENSP00000382544.2:p.Ala123Val
ENST00000252137.10:c.*2429G>A (ESS2)	ENSP00000252137.6:n.*2429G>A
ENST00000399635.3:c.368C>T (TSSK2)	ENSP00000382544.2:p.Ala123Val
NM_022719.2:c.*2429G>A (ESS2)	NP_073210.1:n.*2429G>A
NM_053006.4:c.368C>T (TSSK2)	NP_443732.3:p.Ala123Val
XM_005261282.3:c.*2429G>A (ESS2)	XP_005261339.1:n.*2429G>A
XM_006724329.2:c.*2429G>A (ESS2)	XP_006724392.1:n.*2429G>A
XM_006724330.2:c.*2429G>A (ESS2)	XP_006724393.1:n.*2429G>A
XM_006724331.2:c.*2429G>A (ESS2)	XP_006724394.1:n.*2429G>A
XR_937926.1:n.3818G>A (ESS2)
NR_134304.1:n.3974G>A (ESS2)
NM_022719.3:c.*2429G>A (ESS2) MANE Select	NP_073210.1:n.*2429G>A
NM_053006.5:c.368C>T (TSSK2) MANE Select	NP_443732.3:p.Ala123Val
NR_134304.2:n.3948G>A (ESS2)