Canonical Allele Identifier: CA410641461

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19131916A>C , CM000684.2:g.19131916A>C GRCh38
NC_000022.10:g.19119429A>C , CM000684.1:g.19119429A>C GRCh37
NC_000022.9:g.17499429A>C NCBI36
NG_008320.1:g.17762T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252137.11:c.*2280T>G (ESS2) MANE Select ENSP00000252137.6:n.*2280T>G
ENST00000399635.4:c.517A>C (TSSK2) MANE Select ENSP00000382544.2:p.Lys173Gln
ENST00000252137.10:c.*2280T>G (ESS2) ENSP00000252137.6:n.*2280T>G
ENST00000399635.3:c.517A>C (TSSK2) ENSP00000382544.2:p.Lys173Gln
NM_022719.2:c.*2280T>G (ESS2) NP_073210.1:n.*2280T>G
NM_053006.4:c.517A>C (TSSK2) NP_443732.3:p.Lys173Gln
XM_005261282.3:c.*2280T>G (ESS2) XP_005261339.1:n.*2280T>G
XM_006724329.2:c.*2280T>G (ESS2) XP_006724392.1:n.*2280T>G
XM_006724330.2:c.*2280T>G (ESS2) XP_006724393.1:n.*2280T>G
XM_006724331.2:c.*2280T>G (ESS2) XP_006724394.1:n.*2280T>G
XR_937926.1:n.3669T>G (ESS2)
NR_134304.1:n.3825T>G (ESS2)
NM_022719.3:c.*2280T>G (ESS2) MANE Select NP_073210.1:n.*2280T>G
NM_053006.5:c.517A>C (TSSK2) MANE Select NP_443732.3:p.Lys173Gln
NR_134304.2:n.3799T>G (ESS2)