Canonical Allele Identifier: CA10096432

Gene: ESS2 TSSK2

Linked Data

• ClinVar Variation Id: 2487237
• ClinVar RCV Id: RCV003195281
• dbSNP Id: rs747040828
• ExAC: 22:19119654 C / T
• gnomAD v2: 22-19119654-C-T
• MyVariant Identifiers: chr22:g.19119654C>T (hg19) ; chr22:g.19132141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132141C>T , CM000684.2:g.19132141C>T	GRCh38
NC_000022.10:g.19119654C>T , CM000684.1:g.19119654C>T	GRCh37
NC_000022.9:g.17499654C>T	NCBI36
NG_008320.1:g.17537G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252137.11:c.*2055G>A (ESS2) MANE Select	ENSP00000252137.6:n.*2055G>A
ENST00000399635.4:c.742C>T (TSSK2) MANE Select	ENSP00000382544.2:p.Leu248Phe
ENST00000252137.10:c.*2055G>A (ESS2)	ENSP00000252137.6:n.*2055G>A
ENST00000399635.3:c.742C>T (TSSK2)	ENSP00000382544.2:p.Leu248Phe
NM_022719.2:c.*2055G>A (ESS2)	NP_073210.1:n.*2055G>A
NM_053006.4:c.742C>T (TSSK2)	NP_443732.3:p.Leu248Phe
XM_005261282.3:c.*2055G>A (ESS2)	XP_005261339.1:n.*2055G>A
XM_006724329.2:c.*2055G>A (ESS2)	XP_006724392.1:n.*2055G>A
XM_006724330.2:c.*2055G>A (ESS2)	XP_006724393.1:n.*2055G>A
XM_006724331.2:c.*2055G>A (ESS2)	XP_006724394.1:n.*2055G>A
XR_937926.1:n.3444G>A (ESS2)
NR_134304.1:n.3600G>A (ESS2)
NM_022719.3:c.*2055G>A (ESS2) MANE Select	NP_073210.1:n.*2055G>A
NM_053006.5:c.742C>T (TSSK2) MANE Select	NP_443732.3:p.Leu248Phe
NR_134304.2:n.3574G>A (ESS2)