Canonical Allele Identifier: CA410645276

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs1287968284
• gnomAD v3: 22-19132404-C-G
• gnomAD v4: 22-19132404-C-G
• MyVariant Identifiers: chr22:g.19119917C>G (hg19) ; chr22:g.19132404C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132404C>G , CM000684.2:g.19132404C>G	GRCh38
NC_000022.10:g.19119917C>G , CM000684.1:g.19119917C>G	GRCh37
NC_000022.9:g.17499917C>G	NCBI36
NG_008320.1:g.17274G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*1792G>C (ESS2) MANE Select	ENSP00000252137.6:n.*1792G>C
ENST00000399635.4:c.1005C>G (TSSK2) MANE Select	ENSP00000382544.2:p.Asp335Glu
ENST00000252137.10:c.*1792G>C (ESS2)	ENSP00000252137.6:n.*1792G>C
ENST00000399635.3:c.1005C>G (TSSK2)	ENSP00000382544.2:p.Asp335Glu
NM_022719.2:c.*1792G>C (ESS2)	NP_073210.1:n.*1792G>C
NM_053006.4:c.1005C>G (TSSK2)	NP_443732.3:p.Asp335Glu
XM_005261282.3:c.*1792G>C (ESS2)	XP_005261339.1:n.*1792G>C
XM_006724329.2:c.*1792G>C (ESS2)	XP_006724392.1:n.*1792G>C
XM_006724330.2:c.*1792G>C (ESS2)	XP_006724393.1:n.*1792G>C
XM_006724331.2:c.*1792G>C (ESS2)	XP_006724394.1:n.*1792G>C
XR_937926.1:n.3181G>C (ESS2)
NR_134304.1:n.3337G>C (ESS2)
NM_022719.3:c.*1792G>C (ESS2) MANE Select	NP_073210.1:n.*1792G>C
NM_053006.5:c.1005C>G (TSSK2) MANE Select	NP_443732.3:p.Asp335Glu
NR_134304.2:n.3311G>C (ESS2)