Canonical Allele Identifier: CA2497322541
Gene: TPCN2 HGNC NCBI

Linked Data

dbSNP Id: rs1855885849

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078583_69078587del , CM000673.2:g.69078583_69078587del GRCh38
NC_000011.9:g.68846051_68846055del , CM000673.1:g.68846051_68846055del GRCh37
NC_000011.8:g.68602627_68602631del NCBI36
NG_016153.1:g.34702_34706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.189_193del ENSP00000509200.1:p.Asn64GlyfsTer17
ENST00000294309.8:c.1332_1336del MANE Select ENSP00000294309.3:p.Asn445GlyfsTer17
ENST00000635811.1:c.1332_1336del ENSP00000490341.1:p.Asn445GlyfsTer17
ENST00000637084.1:c.189_193del ENSP00000490615.1:p.Asn64GlyfsTer17
ENST00000637342.1:c.1332_1336del ENSP00000490171.1:p.Asn445GlyfsTer17
ENST00000637504.1:c.1332_1336del ENSP00000489759.1:p.Asn445GlyfsTer17
ENST00000294309.7:c.1332_1336del ENSP00000294309.3:p.Asn445GlyfsTer17
ENST00000442692.2:n.925_929del
ENST00000535009.5:n.1141_1145del
ENST00000542467.1:c.1332_1336del ENSP00000445551.1:p.Asn445GlyfsTer17
NM_139075.3:c.1332_1336del NP_620714.2:p.Asn445GlyfsTer17
XM_005273824.2:c.1329_1333del XP_005273881.1:p.Asn444GlyfsTer17
XM_005273826.2:c.1077_1081del XP_005273883.1:p.Asn360GlyfsTer17
XM_005273827.2:c.1332_1336del XP_005273884.1:p.Asn445GlyfsTer17
XM_005273828.2:c.1332_1336del XP_005273885.1:p.Asn445GlyfsTer17
XM_005273830.2:c.639_643del XP_005273887.1:p.Asn214GlyfsTer17
XM_005273831.2:c.639_643del XP_005273888.1:p.Asn214GlyfsTer17
XM_005273832.2:c.609_613del XP_005273889.1:p.Asn204GlyfsTer17
XM_006718453.2:c.1332_1336del XP_006718516.1:p.Asn445GlyfsTer17
XM_006718454.2:c.1332_1336del XP_006718517.1:p.Asn445GlyfsTer17
XM_006718456.2:c.1332_1336del XP_006718519.1:p.Asn445GlyfsTer17
XM_011544802.1:c.1092_1096del XP_011543104.1:p.Asn365GlyfsTer17
XM_011544803.1:c.1332_1336del XP_011543105.1:p.Asn445GlyfsTer17
XM_011544804.1:c.1332_1336del XP_011543106.1:p.Asn445GlyfsTer17
XM_011544805.1:c.1332_1336del XP_011543107.1:p.Asn445GlyfsTer17
XM_011544806.1:c.1332_1336del XP_011543108.1:p.Asn445GlyfsTer17
XM_011544807.1:c.636_640del XP_011543109.1:p.Asn213GlyfsTer17
XM_011544808.1:c.501_505del XP_011543110.1:p.Asn168GlyfsTer17
XR_247191.1:n.1433_1437del
XM_005273824.4:c.1329_1333del XP_005273881.1:p.Asn444GlyfsTer17
XM_005273826.4:c.1077_1081del XP_005273883.1:p.Asn360GlyfsTer17
XM_005273830.4:c.639_643del XP_005273887.1:p.Asn214GlyfsTer17
XM_005273831.4:c.639_643del XP_005273888.1:p.Asn214GlyfsTer17
XM_005273832.4:c.609_613del XP_005273889.1:p.Asn204GlyfsTer17
XM_011544802.3:c.1092_1096del XP_011543104.1:p.Asn365GlyfsTer17
XM_011544807.3:c.636_640del XP_011543109.1:p.Asn213GlyfsTer17
XM_011544808.3:c.501_505del XP_011543110.1:p.Asn168GlyfsTer17
XM_017017328.2:c.1163_1167del XP_016872817.1:p.Gln388LeufsTer?
XM_017017329.2:c.1160_1164del XP_016872818.1:p.Gln387LeufsTer?
XM_017017330.2:c.609_613del XP_016872819.1:p.Asn204GlyfsTer17
XM_017017331.2:c.609_613del XP_016872820.1:p.Asn204GlyfsTer17
XM_017017332.2:c.423_427del XP_016872821.1:p.Asn142GlyfsTer17
XM_017017333.2:c.440_444del XP_016872822.1:p.Gln147LeufsTer?
XM_017017334.2:c.440_444del XP_016872823.1:p.Gln147LeufsTer?
XM_017017335.2:c.440_444del XP_016872824.1:p.Gln147LeufsTer?
XM_017017336.2:c.332_336del XP_016872825.1:p.Gln111LeufsTer?
XM_024448392.1:c.1122_1126del XP_024304160.1:p.Asn375GlyfsTer17
XM_024448393.1:c.609_613del XP_024304161.1:p.Asn204GlyfsTer17
XR_001747789.2:n.1264_1268del
XR_001747790.2:n.1264_1268del
XR_247191.3:n.1436_1440del
NM_139075.4:c.1332_1336del MANE Select NP_620714.2:p.Asn445GlyfsTer17