Canonical Allele Identifier: CA410642786

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs1275037848
• gnomAD v2: 22-19119661-A-G
• gnomAD v4: 22-19132148-A-G
• MyVariant Identifiers: chr22:g.19119661A>G (hg19) ; chr22:g.19132148A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132148A>G , CM000684.2:g.19132148A>G	GRCh38
NC_000022.10:g.19119661A>G , CM000684.1:g.19119661A>G	GRCh37
NC_000022.9:g.17499661A>G	NCBI36
NG_008320.1:g.17530T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252137.11:c.*2048T>C (ESS2) MANE Select	ENSP00000252137.6:n.*2048T>C
ENST00000399635.4:c.749A>G (TSSK2) MANE Select	ENSP00000382544.2:p.Tyr250Cys
ENST00000252137.10:c.*2048T>C (ESS2)	ENSP00000252137.6:n.*2048T>C
ENST00000399635.3:c.749A>G (TSSK2)	ENSP00000382544.2:p.Tyr250Cys
NM_022719.2:c.*2048T>C (ESS2)	NP_073210.1:n.*2048T>C
NM_053006.4:c.749A>G (TSSK2)	NP_443732.3:p.Tyr250Cys
XM_005261282.3:c.*2048T>C (ESS2)	XP_005261339.1:n.*2048T>C
XM_006724329.2:c.*2048T>C (ESS2)	XP_006724392.1:n.*2048T>C
XM_006724330.2:c.*2048T>C (ESS2)	XP_006724393.1:n.*2048T>C
XM_006724331.2:c.*2048T>C (ESS2)	XP_006724394.1:n.*2048T>C
XR_937926.1:n.3437T>C (ESS2)
NR_134304.1:n.3593T>C (ESS2)
NM_022719.3:c.*2048T>C (ESS2) MANE Select	NP_073210.1:n.*2048T>C
NM_053006.5:c.749A>G (TSSK2) MANE Select	NP_443732.3:p.Tyr250Cys
NR_134304.2:n.3567T>C (ESS2)