Canonical Allele Identifier: CA10096453

Linked Data

dbSNP Id: rs1052763

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19132238C>T , CM000684.2:g.19132238C>T GRCh38
NC_000022.10:g.19119751C>T , CM000684.1:g.19119751C>T GRCh37
NC_000022.9:g.17499751C>T NCBI36
NG_008320.1:g.17440G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252137.11:c.*1958G>A (ESS2) MANE Select ENSP00000252137.6:n.*1958G>A
ENST00000399635.4:c.839C>T (TSSK2) MANE Select ENSP00000382544.2:p.Thr280Met
ENST00000252137.10:c.*1958G>A (ESS2) ENSP00000252137.6:n.*1958G>A
ENST00000399635.3:c.839C>T (TSSK2) ENSP00000382544.2:p.Thr280Met
NM_022719.2:c.*1958G>A (ESS2) NP_073210.1:n.*1958G>A
NM_053006.4:c.839C>T (TSSK2) NP_443732.3:p.Thr280Met
XM_005261282.3:c.*1958G>A (ESS2) XP_005261339.1:n.*1958G>A
XM_006724329.2:c.*1958G>A (ESS2) XP_006724392.1:n.*1958G>A
XM_006724330.2:c.*1958G>A (ESS2) XP_006724393.1:n.*1958G>A
XM_006724331.2:c.*1958G>A (ESS2) XP_006724394.1:n.*1958G>A
XR_937926.1:n.3347G>A (ESS2)
NR_134304.1:n.3503G>A (ESS2)
NM_022719.3:c.*1958G>A (ESS2) MANE Select NP_073210.1:n.*1958G>A
NM_053006.5:c.839C>T (TSSK2) MANE Select NP_443732.3:p.Thr280Met
NR_134304.2:n.3477G>A (ESS2)