Canonical Allele Identifier: CA381655843
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078596A>T , CM000673.2:g.69078596A>T GRCh38
NC_000011.9:g.68846064A>T , CM000673.1:g.68846064A>T GRCh37
NC_000011.8:g.68602640A>T NCBI36
NG_016153.1:g.34715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.202A>T ENSP00000509200.1:p.Ile68Phe
ENST00000294309.8:c.1345A>T MANE Select ENSP00000294309.3:p.Ile449Phe
ENST00000635811.1:c.1345A>T ENSP00000490341.1:p.Ile449Phe
ENST00000637084.1:c.202A>T ENSP00000490615.1:p.Ile68Phe
ENST00000637342.1:c.1345A>T ENSP00000490171.1:p.Ile449Phe
ENST00000637504.1:c.1345A>T ENSP00000489759.1:p.Ile449Phe
ENST00000294309.7:c.1345A>T ENSP00000294309.3:p.Ile449Phe
ENST00000442692.2:n.938A>T
ENST00000535009.5:n.1154A>T
ENST00000542467.1:c.1345A>T ENSP00000445551.1:p.Ile449Phe
NM_139075.3:c.1345A>T NP_620714.2:p.Ile449Phe
XM_005273824.2:c.1342A>T XP_005273881.1:p.Ile448Phe
XM_005273826.2:c.1090A>T XP_005273883.1:p.Ile364Phe
XM_005273827.2:c.1345A>T XP_005273884.1:p.Ile449Phe
XM_005273828.2:c.1345A>T XP_005273885.1:p.Ile449Phe
XM_005273830.2:c.652A>T XP_005273887.1:p.Ile218Phe
XM_005273831.2:c.652A>T XP_005273888.1:p.Ile218Phe
XM_005273832.2:c.622A>T XP_005273889.1:p.Ile208Phe
XM_006718453.2:c.1345A>T XP_006718516.1:p.Ile449Phe
XM_006718454.2:c.1345A>T XP_006718517.1:p.Ile449Phe
XM_006718456.2:c.1345A>T XP_006718519.1:p.Ile449Phe
XM_011544802.1:c.1105A>T XP_011543104.1:p.Ile369Phe
XM_011544803.1:c.1345A>T XP_011543105.1:p.Ile449Phe
XM_011544804.1:c.1345A>T XP_011543106.1:p.Ile449Phe
XM_011544805.1:c.1345A>T XP_011543107.1:p.Ile449Phe
XM_011544806.1:c.1345A>T XP_011543108.1:p.Ile449Phe
XM_011544807.1:c.649A>T XP_011543109.1:p.Ile217Phe
XM_011544808.1:c.514A>T XP_011543110.1:p.Ile172Phe
XR_247191.1:n.1446A>T
XM_005273824.4:c.1342A>T XP_005273881.1:p.Ile448Phe
XM_005273826.4:c.1090A>T XP_005273883.1:p.Ile364Phe
XM_005273830.4:c.652A>T XP_005273887.1:p.Ile218Phe
XM_005273831.4:c.652A>T XP_005273888.1:p.Ile218Phe
XM_005273832.4:c.622A>T XP_005273889.1:p.Ile208Phe
XM_011544802.3:c.1105A>T XP_011543104.1:p.Ile369Phe
XM_011544807.3:c.649A>T XP_011543109.1:p.Ile217Phe
XM_011544808.3:c.514A>T XP_011543110.1:p.Ile172Phe
XM_017017328.2:c.1176A>T XP_016872817.1:p.Pro392=
XM_017017329.2:c.1173A>T XP_016872818.1:p.Pro391=
XM_017017330.2:c.622A>T XP_016872819.1:p.Ile208Phe
XM_017017331.2:c.622A>T XP_016872820.1:p.Ile208Phe
XM_017017332.2:c.436A>T XP_016872821.1:p.Ile146Phe
XM_017017333.2:c.453A>T XP_016872822.1:p.Pro151=
XM_017017334.2:c.453A>T XP_016872823.1:p.Pro151=
XM_017017335.2:c.453A>T XP_016872824.1:p.Pro151=
XM_017017336.2:c.345A>T XP_016872825.1:p.Pro115=
XM_024448392.1:c.1135A>T XP_024304160.1:p.Ile379Phe
XM_024448393.1:c.622A>T XP_024304161.1:p.Ile208Phe
XR_001747789.2:n.1277A>T
XR_001747790.2:n.1277A>T
XR_247191.3:n.1449A>T
NM_139075.4:c.1345A>T MANE Select NP_620714.2:p.Ile449Phe