Canonical Allele Identifier: CA381656398
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078970C>G , CM000673.2:g.69078970C>G GRCh38
NC_000011.9:g.68846438C>G , CM000673.1:g.68846438C>G GRCh37
NC_000011.8:g.68603014C>G NCBI36
NG_016153.1:g.35089C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.346C>G ENSP00000509200.1:p.Leu116Val
ENST00000294309.8:c.1489C>G MANE Select ENSP00000294309.3:p.Leu497Val
ENST00000635811.1:c.1489C>G ENSP00000490341.1:p.Leu497Val
ENST00000637084.1:c.346C>G ENSP00000490615.1:p.Leu116Val
ENST00000637342.1:c.1489C>G ENSP00000490171.1:p.Leu497Val
ENST00000637504.1:c.1489C>G ENSP00000489759.1:p.Leu497Val
ENST00000294309.7:c.1489C>G ENSP00000294309.3:p.Leu497Val
ENST00000442692.2:n.1082C>G
ENST00000535009.5:n.1298C>G
ENST00000542467.1:c.1489C>G ENSP00000445551.1:p.Leu497Val
NM_139075.3:c.1489C>G NP_620714.2:p.Leu497Val
XM_005273824.2:c.1486C>G XP_005273881.1:p.Leu496Val
XM_005273826.2:c.1234C>G XP_005273883.1:p.Leu412Val
XM_005273827.2:c.1489C>G XP_005273884.1:p.Leu497Val
XM_005273828.2:c.1489C>G XP_005273885.1:p.Leu497Val
XM_005273830.2:c.796C>G XP_005273887.1:p.Leu266Val
XM_005273831.2:c.796C>G XP_005273888.1:p.Leu266Val
XM_005273832.2:c.766C>G XP_005273889.1:p.Leu256Val
XM_006718453.2:c.1489C>G XP_006718516.1:p.Leu497Val
XM_006718454.2:c.1489C>G XP_006718517.1:p.Leu497Val
XM_006718456.2:c.1489C>G XP_006718519.1:p.Leu497Val
XM_011544802.1:c.1249C>G XP_011543104.1:p.Leu417Val
XM_011544803.1:c.1489C>G XP_011543105.1:p.Leu497Val
XM_011544804.1:c.1489C>G XP_011543106.1:p.Leu497Val
XM_011544805.1:c.1489C>G XP_011543107.1:p.Leu497Val
XM_011544806.1:c.1489C>G XP_011543108.1:p.Leu497Val
XM_011544807.1:c.793C>G XP_011543109.1:p.Leu265Val
XM_011544808.1:c.658C>G XP_011543110.1:p.Leu220Val
XR_247191.1:n.1590C>G
XM_005273824.4:c.1486C>G XP_005273881.1:p.Leu496Val
XM_005273826.4:c.1234C>G XP_005273883.1:p.Leu412Val
XM_005273830.4:c.796C>G XP_005273887.1:p.Leu266Val
XM_005273831.4:c.796C>G XP_005273888.1:p.Leu266Val
XM_005273832.4:c.766C>G XP_005273889.1:p.Leu256Val
XM_011544802.3:c.1249C>G XP_011543104.1:p.Leu417Val
XM_011544807.3:c.793C>G XP_011543109.1:p.Leu265Val
XM_011544808.3:c.658C>G XP_011543110.1:p.Leu220Val
XM_017017328.2:c.1320C>G XP_016872817.1:p.Thr440=
XM_017017329.2:c.1317C>G XP_016872818.1:p.Thr439=
XM_017017330.2:c.766C>G XP_016872819.1:p.Leu256Val
XM_017017331.2:c.766C>G XP_016872820.1:p.Leu256Val
XM_017017332.2:c.580C>G XP_016872821.1:p.Leu194Val
XM_017017333.2:c.597C>G XP_016872822.1:p.Thr199=
XM_017017334.2:c.597C>G XP_016872823.1:p.Thr199=
XM_017017335.2:c.597C>G XP_016872824.1:p.Thr199=
XM_017017336.2:c.489C>G XP_016872825.1:p.Thr163=
XM_024448392.1:c.1279C>G XP_024304160.1:p.Leu427Val
XM_024448393.1:c.766C>G XP_024304161.1:p.Leu256Val
XR_001747789.2:n.1421C>G
XR_001747790.2:n.1421C>G
XR_247191.3:n.1593C>G
NM_139075.4:c.1489C>G MANE Select NP_620714.2:p.Leu497Val