Canonical Allele Identifier: CA10096425

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs143115966
• ExAC: 22:19119640 G / T
• gnomAD v2: 22-19119640-G-T
• gnomAD v3: 22-19132127-G-T
• gnomAD v4: 22-19132127-G-T
• MyVariant Identifiers: chr22:g.19119640G>T (hg19) ; chr22:g.19132127G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19132127G>T , CM000684.2:g.19132127G>T	GRCh38
NC_000022.10:g.19119640G>T , CM000684.1:g.19119640G>T	GRCh37
NC_000022.9:g.17499640G>T	NCBI36
NG_008320.1:g.17551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2069C>A (ESS2) MANE Select	ENSP00000252137.6:n.*2069C>A
ENST00000399635.4:c.728G>T (TSSK2) MANE Select	ENSP00000382544.2:p.Cys243Phe
ENST00000252137.10:c.*2069C>A (ESS2)	ENSP00000252137.6:n.*2069C>A
ENST00000399635.3:c.728G>T (TSSK2)	ENSP00000382544.2:p.Cys243Phe
NM_022719.2:c.*2069C>A (ESS2)	NP_073210.1:n.*2069C>A
NM_053006.4:c.728G>T (TSSK2)	NP_443732.3:p.Cys243Phe
XM_005261282.3:c.*2069C>A (ESS2)	XP_005261339.1:n.*2069C>A
XM_006724329.2:c.*2069C>A (ESS2)	XP_006724392.1:n.*2069C>A
XM_006724330.2:c.*2069C>A (ESS2)	XP_006724393.1:n.*2069C>A
XM_006724331.2:c.*2069C>A (ESS2)	XP_006724394.1:n.*2069C>A
XR_937926.1:n.3458C>A (ESS2)
NR_134304.1:n.3614C>A (ESS2)
NM_022719.3:c.*2069C>A (ESS2) MANE Select	NP_073210.1:n.*2069C>A
NM_053006.5:c.728G>T (TSSK2) MANE Select	NP_443732.3:p.Cys243Phe
NR_134304.2:n.3588C>A (ESS2)