Canonical Allele Identifier: CA10096336

Gene: ESS2 TSSK2

Linked Data

• dbSNP Id: rs750282273
• ExAC: 22:19119253 G / A
• gnomAD v2: 22-19119253-G-A
• gnomAD v3: 22-19131740-G-A
• gnomAD v4: 22-19131740-G-A
• MyVariant Identifiers: chr22:g.19119253G>A (hg19) ; chr22:g.19131740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19131740G>A , CM000684.2:g.19131740G>A	GRCh38
NC_000022.10:g.19119253G>A , CM000684.1:g.19119253G>A	GRCh37
NC_000022.9:g.17499253G>A	NCBI36
NG_008320.1:g.17938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252137.11:c.*2456C>T (ESS2) MANE Select	ENSP00000252137.6:n.*2456C>T
ENST00000399635.4:c.341G>A (TSSK2) MANE Select	ENSP00000382544.2:p.Arg114His
ENST00000252137.10:c.*2456C>T (ESS2)	ENSP00000252137.6:n.*2456C>T
ENST00000399635.3:c.341G>A (TSSK2)	ENSP00000382544.2:p.Arg114His
NM_022719.2:c.*2456C>T (ESS2)	NP_073210.1:n.*2456C>T
NM_053006.4:c.341G>A (TSSK2)	NP_443732.3:p.Arg114His
XM_005261282.3:c.*2456C>T (ESS2)	XP_005261339.1:n.*2456C>T
XM_006724329.2:c.*2456C>T (ESS2)	XP_006724392.1:n.*2456C>T
XM_006724330.2:c.*2456C>T (ESS2)	XP_006724393.1:n.*2456C>T
XM_006724331.2:c.*2456C>T (ESS2)	XP_006724394.1:n.*2456C>T
XR_937926.1:n.3845C>T (ESS2)
NR_134304.1:n.4001C>T (ESS2)
NM_022719.3:c.*2456C>T (ESS2) MANE Select	NP_073210.1:n.*2456C>T
NM_053006.5:c.341G>A (TSSK2) MANE Select	NP_443732.3:p.Arg114His
NR_134304.2:n.3975C>T (ESS2)