Canonical Allele Identifier: CA410645541

Linked Data

ClinVar Variation Id: 3183964
ClinVar RCV Id: RCV004476781
dbSNP Id: rs1191692729

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19132436A>G , CM000684.2:g.19132436A>G GRCh38
NC_000022.10:g.19119949A>G , CM000684.1:g.19119949A>G GRCh37
NC_000022.9:g.17499949A>G NCBI36
NG_008320.1:g.17242T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252137.11:c.*1760T>C (ESS2) MANE Select ENSP00000252137.6:n.*1760T>C
ENST00000399635.4:c.1037A>G (TSSK2) MANE Select ENSP00000382544.2:p.His346Arg
ENST00000252137.10:c.*1760T>C (ESS2) ENSP00000252137.6:n.*1760T>C
ENST00000399635.3:c.1037A>G (TSSK2) ENSP00000382544.2:p.His346Arg
NM_022719.2:c.*1760T>C (ESS2) NP_073210.1:n.*1760T>C
NM_053006.4:c.1037A>G (TSSK2) NP_443732.3:p.His346Arg
XM_005261282.3:c.*1760T>C (ESS2) XP_005261339.1:n.*1760T>C
XM_006724329.2:c.*1760T>C (ESS2) XP_006724392.1:n.*1760T>C
XM_006724330.2:c.*1760T>C (ESS2) XP_006724393.1:n.*1760T>C
XM_006724331.2:c.*1760T>C (ESS2) XP_006724394.1:n.*1760T>C
XR_937926.1:n.3149T>C (ESS2)
NR_134304.1:n.3305T>C (ESS2)
NM_022719.3:c.*1760T>C (ESS2) MANE Select NP_073210.1:n.*1760T>C
NM_053006.5:c.1037A>G (TSSK2) MANE Select NP_443732.3:p.His346Arg
NR_134304.2:n.3279T>C (ESS2)