Canonical Allele Identifier: CA2580600342
Community Standard Title: NM_139075.4(TPCN2):c.1127A= (p.Lys376=)
Gene: TPCN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69072692A= , CM000673.2:g.69072692A= GRCh38
NC_000011.9:g.68840160A= , CM000673.1:g.68840160A= GRCh37
NC_000011.8:g.68596736A= NCBI36
NG_016153.1:g.28811A=

Transcript Alleles

HGVS Amino-acid Change
NM_139075.4:c.1127A= MANE Select NP_620714.2:p.Lys376=
ENST00000294309.8:c.1127A= MANE Select ENSP00000294309.3:p.Lys376=
NM_139075.3:c.1127A= NP_620714.2:p.Lys376=
ENST00000294309.7:c.1127A= ENSP00000294309.3:p.Lys376=
ENST00000442692.2:n.823+669A=
ENST00000535009.5:n.936A=
ENST00000542467.1:c.1127A= ENSP00000445551.1:p.Lys376=
ENST00000635811.1:c.1127A= ENSP00000490341.1:p.Lys376=
ENST00000637342.1:c.1127A= ENSP00000490171.1:p.Lys376=
ENST00000637504.1:c.1127A= ENSP00000489759.1:p.Lys376=
XM_005273824.2:c.1124A= XP_005273881.1:p.Lys375=
XM_005273824.4:c.1124A= XP_005273881.1:p.Lys375=
XM_005273826.2:c.872A= XP_005273883.1:p.Lys291=
XM_005273826.4:c.872A= XP_005273883.1:p.Lys291=
XM_005273827.2:c.1127A= XP_005273884.1:p.Lys376=
XM_005273828.2:c.1127A= XP_005273885.1:p.Lys376=
XM_005273830.2:c.434A= XP_005273887.1:p.Lys145=
XM_005273830.4:c.434A= XP_005273887.1:p.Lys145=
XM_005273831.2:c.434A= XP_005273888.1:p.Lys145=
XM_005273831.4:c.434A= XP_005273888.1:p.Lys145=
XM_005273832.2:c.404A= XP_005273889.1:p.Lys135=
XM_005273832.4:c.404A= XP_005273889.1:p.Lys135=
XM_006718453.2:c.1127A= XP_006718516.1:p.Lys376=
XM_006718454.2:c.1127A= XP_006718517.1:p.Lys376=
XM_006718456.2:c.1127A= XP_006718519.1:p.Lys376=
XM_011544802.1:c.887A= XP_011543104.1:p.Lys296=
XM_011544802.3:c.887A= XP_011543104.1:p.Lys296=
XM_011544803.1:c.1127A= XP_011543105.1:p.Lys376=
XM_011544804.1:c.1127A= XP_011543106.1:p.Lys376=
XM_011544805.1:c.1127A= XP_011543107.1:p.Lys376=
XM_011544806.1:c.1127A= XP_011543108.1:p.Lys376=
XM_011544807.1:c.431A= XP_011543109.1:p.Lys144=
XM_011544807.3:c.431A= XP_011543109.1:p.Lys144=
XM_011544808.1:c.296A= XP_011543110.1:p.Lys99=
XM_011544808.3:c.296A= XP_011543110.1:p.Lys99=
XM_017017328.2:c.1061+669A= XP_016872817.1:n.1061+669A=
XM_017017329.2:c.1058+669A= XP_016872818.1:n.1058+669A=
XM_017017330.2:c.404A= XP_016872819.1:p.Lys135=
XM_017017331.2:c.404A= XP_016872820.1:p.Lys135=
XM_017017332.2:c.218A= XP_016872821.1:p.Lys73=
XM_017017333.2:c.338+669A= XP_016872822.1:n.338+669A=
XM_017017334.2:c.338+669A= XP_016872823.1:n.338+669A=
XM_017017335.2:c.338+669A= XP_016872824.1:n.338+669A=
XM_017017336.2:c.230+669A= XP_016872825.1:n.230+669A=
XM_024448392.1:c.917A= XP_024304160.1:p.Lys306=
XM_024448393.1:c.404A= XP_024304161.1:p.Lys135=
XR_001747789.2:n.1162+669A=
XR_001747790.2:n.1162+669A=
XR_247191.1:n.1228A=
XR_247191.3:n.1231A=