Canonical Allele Identifier: CA2395734511

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19131739_19131740delinsCG , CM000684.2:g.19131739_19131740delinsCG GRCh38
NC_000022.10:g.19119252_19119253delinsCG , CM000684.1:g.19119252_19119253delinsCG GRCh37
NC_000022.9:g.17499252_17499253delinsCG NCBI36
NG_008320.1:g.17938_17939delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000252137.11:c.*2456_*2457delinsCG (ESS2) MANE Select ENSP00000252137.6:n.*2456_*2457delinsCG
ENST00000399635.4:c.340_341delinsCG (TSSK2) MANE Select ENSP00000382544.2:p.Arg114=
ENST00000252137.10:c.*2456_*2457delinsCG (ESS2) ENSP00000252137.6:n.*2456_*2457delinsCG
ENST00000399635.3:c.340_341delinsCG (TSSK2) ENSP00000382544.2:p.Arg114=
NM_022719.2:c.*2456_*2457delinsCG (ESS2) NP_073210.1:n.*2456_*2457delinsCG
NM_053006.4:c.340_341delinsCG (TSSK2) NP_443732.3:p.Arg114=
XM_005261282.3:c.*2456_*2457delinsCG (ESS2) XP_005261339.1:n.*2456_*2457delinsCG
XM_006724329.2:c.*2456_*2457delinsCG (ESS2) XP_006724392.1:n.*2456_*2457delinsCG
XM_006724330.2:c.*2456_*2457delinsCG (ESS2) XP_006724393.1:n.*2456_*2457delinsCG
XM_006724331.2:c.*2456_*2457delinsCG (ESS2) XP_006724394.1:n.*2456_*2457delinsCG
XR_937926.1:n.3845_3846delinsCG (ESS2)
NR_134304.1:n.4001_4002delinsCG (ESS2)
NM_022719.3:c.*2456_*2457delinsCG (ESS2) MANE Select NP_073210.1:n.*2456_*2457delinsCG
NM_053006.5:c.340_341delinsCG (TSSK2) MANE Select NP_443732.3:p.Arg114=
NR_134304.2:n.3975_3976delinsCG (ESS2)