Canonical Allele Identifier: CA2614758505
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078757_69078758insCAAATCCCAGAATAAGAGG , CM000673.2:g.69078757_69078758insCAAATCCCAGAATAAGAGG GRCh38
NC_000011.9:g.68846225_68846226insCAAATCCCAGAATAAGAGG , CM000673.1:g.68846225_68846226insCAAATCCCAGAATAAGAGG GRCh37
NC_000011.8:g.68602801_68602802insCAAATCCCAGAATAAGAGG NCBI36
NG_016153.1:g.34876_34877insCAAATCCCAGAATAAGAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.231_232insCAAATCCCAGAATAAGAGG ENSP00000509200.1:p.Val78GlnfsTer5
ENST00000294309.8:c.1374_1375insCAAATCCCAGAATAAGAGG MANE Select ENSP00000294309.3:p.Val459GlnfsTer5
ENST00000635811.1:c.1374_1375insCAAATCCCAGAATAAGAGG ENSP00000490341.1:p.Val459GlnfsTer5
ENST00000637084.1:c.231_232insCAAATCCCAGAATAAGAGG ENSP00000490615.1:p.Val78GlnfsTer5
ENST00000637342.1:c.1374_1375insCAAATCCCAGAATAAGAGG ENSP00000490171.1:p.Val459GlnfsTer5
ENST00000637504.1:c.1374_1375insCAAATCCCAGAATAAGAGG ENSP00000489759.1:p.Val459GlnfsTer5
ENST00000294309.7:c.1374_1375insCAAATCCCAGAATAAGAGG ENSP00000294309.3:p.Val459GlnfsTer5
ENST00000442692.2:n.967_968insCAAATCCCAGAATAAGAGG
ENST00000535009.5:n.1183_1184insCAAATCCCAGAATAAGAGG
ENST00000542467.1:c.1374_1375insCAAATCCCAGAATAAGAGG ENSP00000445551.1:p.Val459GlnfsTer5
NM_139075.3:c.1374_1375insCAAATCCCAGAATAAGAGG NP_620714.2:p.Val459GlnfsTer5
XM_005273824.2:c.1371_1372insCAAATCCCAGAATAAGAGG XP_005273881.1:p.Val458GlnfsTer5
XM_005273826.2:c.1119_1120insCAAATCCCAGAATAAGAGG XP_005273883.1:p.Val374GlnfsTer5
XM_005273827.2:c.1374_1375insCAAATCCCAGAATAAGAGG XP_005273884.1:p.Val459GlnfsTer5
XM_005273828.2:c.1374_1375insCAAATCCCAGAATAAGAGG XP_005273885.1:p.Val459GlnfsTer5
XM_005273830.2:c.681_682insCAAATCCCAGAATAAGAGG XP_005273887.1:p.Val228GlnfsTer5
XM_005273831.2:c.681_682insCAAATCCCAGAATAAGAGG XP_005273888.1:p.Val228GlnfsTer5
XM_005273832.2:c.651_652insCAAATCCCAGAATAAGAGG XP_005273889.1:p.Val218GlnfsTer5
XM_006718453.2:c.1374_1375insCAAATCCCAGAATAAGAGG XP_006718516.1:p.Val459GlnfsTer5
XM_006718454.2:c.1374_1375insCAAATCCCAGAATAAGAGG XP_006718517.1:p.Val459GlnfsTer5
XM_006718456.2:c.1374_1375insCAAATCCCAGAATAAGAGG XP_006718519.1:p.Val459GlnfsTer5
XM_011544802.1:c.1134_1135insCAAATCCCAGAATAAGAGG XP_011543104.1:p.Val379GlnfsTer5
XM_011544803.1:c.1374_1375insCAAATCCCAGAATAAGAGG XP_011543105.1:p.Val459GlnfsTer5
XM_011544804.1:c.1374_1375insCAAATCCCAGAATAAGAGG XP_011543106.1:p.Val459GlnfsTer5
XM_011544805.1:c.1374_1375insCAAATCCCAGAATAAGAGG XP_011543107.1:p.Val459GlnfsTer5
XM_011544806.1:c.1374_1375insCAAATCCCAGAATAAGAGG XP_011543108.1:p.Val459GlnfsTer5
XM_011544807.1:c.678_679insCAAATCCCAGAATAAGAGG XP_011543109.1:p.Val227GlnfsTer5
XM_011544808.1:c.543_544insCAAATCCCAGAATAAGAGG XP_011543110.1:p.Val182GlnfsTer5
XR_247191.1:n.1475_1476insCAAATCCCAGAATAAGAGG
XM_005273824.4:c.1371_1372insCAAATCCCAGAATAAGAGG XP_005273881.1:p.Val458GlnfsTer5
XM_005273826.4:c.1119_1120insCAAATCCCAGAATAAGAGG XP_005273883.1:p.Val374GlnfsTer5
XM_005273830.4:c.681_682insCAAATCCCAGAATAAGAGG XP_005273887.1:p.Val228GlnfsTer5
XM_005273831.4:c.681_682insCAAATCCCAGAATAAGAGG XP_005273888.1:p.Val228GlnfsTer5
XM_005273832.4:c.651_652insCAAATCCCAGAATAAGAGG XP_005273889.1:p.Val218GlnfsTer5
XM_011544802.3:c.1134_1135insCAAATCCCAGAATAAGAGG XP_011543104.1:p.Val379GlnfsTer5
XM_011544807.3:c.678_679insCAAATCCCAGAATAAGAGG XP_011543109.1:p.Val227GlnfsTer5
XM_011544808.3:c.543_544insCAAATCCCAGAATAAGAGG XP_011543110.1:p.Val182GlnfsTer5
XM_017017328.2:c.1205_1206insCAAATCCCAGAATAAGAGG XP_016872817.1:p.Met402IlefsTer?
XM_017017329.2:c.1202_1203insCAAATCCCAGAATAAGAGG XP_016872818.1:p.Met401IlefsTer?
XM_017017330.2:c.651_652insCAAATCCCAGAATAAGAGG XP_016872819.1:p.Val218GlnfsTer5
XM_017017331.2:c.651_652insCAAATCCCAGAATAAGAGG XP_016872820.1:p.Val218GlnfsTer5
XM_017017332.2:c.465_466insCAAATCCCAGAATAAGAGG XP_016872821.1:p.Val156GlnfsTer5
XM_017017333.2:c.482_483insCAAATCCCAGAATAAGAGG XP_016872822.1:p.Met161IlefsTer?
XM_017017334.2:c.482_483insCAAATCCCAGAATAAGAGG XP_016872823.1:p.Met161IlefsTer?
XM_017017335.2:c.482_483insCAAATCCCAGAATAAGAGG XP_016872824.1:p.Met161IlefsTer?
XM_017017336.2:c.374_375insCAAATCCCAGAATAAGAGG XP_016872825.1:p.Met125IlefsTer?
XM_024448392.1:c.1164_1165insCAAATCCCAGAATAAGAGG XP_024304160.1:p.Val389GlnfsTer5
XM_024448393.1:c.651_652insCAAATCCCAGAATAAGAGG XP_024304161.1:p.Val218GlnfsTer5
XR_001747789.2:n.1306_1307insCAAATCCCAGAATAAGAGG
XR_001747790.2:n.1306_1307insCAAATCCCAGAATAAGAGG
XR_247191.3:n.1478_1479insCAAATCCCAGAATAAGAGG
NM_139075.4:c.1374_1375insCAAATCCCAGAATAAGAGG MANE Select NP_620714.2:p.Val459GlnfsTer5