Canonical Allele Identifier: CA10096505

Gene: ESS2 TSSK2

Linked Data

• ClinVar Variation Id: 2319552
• ClinVar RCV Id: RCV004170169
• dbSNP Id: rs189384018
• ExAC: 22:19119960 G / A
• gnomAD v2: 22-19119960-G-A
• gnomAD v3: 22-19132447-G-A
• gnomAD v4: 22-19132447-G-A
• MyVariant Identifiers: chr22:g.19119960G>A (hg19) ; chr22:g.19132447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132447G>A , CM000684.2:g.19132447G>A	GRCh38
NC_000022.10:g.19119960G>A , CM000684.1:g.19119960G>A	GRCh37
NC_000022.9:g.17499960G>A	NCBI36
NG_008320.1:g.17231C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1749C>T (ESS2) MANE Select	ENSP00000252137.6:n.*1749C>T
ENST00000399635.4:c.1048G>A (TSSK2) MANE Select	ENSP00000382544.2:p.Gly350Arg
ENST00000252137.10:c.*1749C>T (ESS2)	ENSP00000252137.6:n.*1749C>T
ENST00000399635.3:c.1048G>A (TSSK2)	ENSP00000382544.2:p.Gly350Arg
NM_022719.2:c.*1749C>T (ESS2)	NP_073210.1:n.*1749C>T
NM_053006.4:c.1048G>A (TSSK2)	NP_443732.3:p.Gly350Arg
XM_005261282.3:c.*1749C>T (ESS2)	XP_005261339.1:n.*1749C>T
XM_006724329.2:c.*1749C>T (ESS2)	XP_006724392.1:n.*1749C>T
XM_006724330.2:c.*1749C>T (ESS2)	XP_006724393.1:n.*1749C>T
XM_006724331.2:c.*1749C>T (ESS2)	XP_006724394.1:n.*1749C>T
XR_937926.1:n.3138C>T (ESS2)
NR_134304.1:n.3294C>T (ESS2)
NM_022719.3:c.*1749C>T (ESS2) MANE Select	NP_073210.1:n.*1749C>T
NM_053006.5:c.1048G>A (TSSK2) MANE Select	NP_443732.3:p.Gly350Arg
NR_134304.2:n.3268C>T (ESS2)