Canonical Allele Identifier: CA381656550
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69079004T>A , CM000673.2:g.69079004T>A GRCh38
NC_000011.9:g.68846472T>A , CM000673.1:g.68846472T>A GRCh37
NC_000011.8:g.68603048T>A NCBI36
NG_016153.1:g.35123T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.380T>A ENSP00000509200.1:p.Leu127His
ENST00000294309.8:c.1523T>A MANE Select ENSP00000294309.3:p.Leu508His
ENST00000635811.1:c.1523T>A ENSP00000490341.1:p.Leu508His
ENST00000637084.1:c.380T>A ENSP00000490615.1:p.Leu127His
ENST00000637342.1:c.1523T>A ENSP00000490171.1:p.Leu508His
ENST00000637504.1:c.1523T>A ENSP00000489759.1:p.Leu508His
ENST00000294309.7:c.1523T>A ENSP00000294309.3:p.Leu508His
ENST00000442692.2:n.1116T>A
ENST00000535009.5:n.1332T>A
ENST00000542467.1:c.1523T>A ENSP00000445551.1:p.Leu508His
NM_139075.3:c.1523T>A NP_620714.2:p.Leu508His
XM_005273824.2:c.1520T>A XP_005273881.1:p.Leu507His
XM_005273826.2:c.1268T>A XP_005273883.1:p.Leu423His
XM_005273827.2:c.1523T>A XP_005273884.1:p.Leu508His
XM_005273828.2:c.1523T>A XP_005273885.1:p.Leu508His
XM_005273830.2:c.830T>A XP_005273887.1:p.Leu277His
XM_005273831.2:c.830T>A XP_005273888.1:p.Leu277His
XM_005273832.2:c.800T>A XP_005273889.1:p.Leu267His
XM_006718453.2:c.1523T>A XP_006718516.1:p.Leu508His
XM_006718454.2:c.1523T>A XP_006718517.1:p.Leu508His
XM_006718456.2:c.1523T>A XP_006718519.1:p.Leu508His
XM_011544802.1:c.1283T>A XP_011543104.1:p.Leu428His
XM_011544803.1:c.1523T>A XP_011543105.1:p.Leu508His
XM_011544804.1:c.1523T>A XP_011543106.1:p.Leu508His
XM_011544805.1:c.1523T>A XP_011543107.1:p.Leu508His
XM_011544806.1:c.1523T>A XP_011543108.1:p.Leu508His
XM_011544807.1:c.827T>A XP_011543109.1:p.Leu276His
XM_011544808.1:c.692T>A XP_011543110.1:p.Leu231His
XR_247191.1:n.1624T>A
XM_005273824.4:c.1520T>A XP_005273881.1:p.Leu507His
XM_005273826.4:c.1268T>A XP_005273883.1:p.Leu423His
XM_005273830.4:c.830T>A XP_005273887.1:p.Leu277His
XM_005273831.4:c.830T>A XP_005273888.1:p.Leu277His
XM_005273832.4:c.800T>A XP_005273889.1:p.Leu267His
XM_011544802.3:c.1283T>A XP_011543104.1:p.Leu428His
XM_011544807.3:c.827T>A XP_011543109.1:p.Leu276His
XM_011544808.3:c.692T>A XP_011543110.1:p.Leu231His
XM_017017328.2:c.1354T>A XP_016872817.1:p.Ser452Thr
XM_017017329.2:c.1351T>A XP_016872818.1:p.Ser451Thr
XM_017017330.2:c.800T>A XP_016872819.1:p.Leu267His
XM_017017331.2:c.800T>A XP_016872820.1:p.Leu267His
XM_017017332.2:c.614T>A XP_016872821.1:p.Leu205His
XM_017017333.2:c.631T>A XP_016872822.1:p.Ser211Thr
XM_017017334.2:c.631T>A XP_016872823.1:p.Ser211Thr
XM_017017335.2:c.631T>A XP_016872824.1:p.Ser211Thr
XM_017017336.2:c.523T>A XP_016872825.1:p.Ser175Thr
XM_024448392.1:c.1313T>A XP_024304160.1:p.Leu438His
XM_024448393.1:c.800T>A XP_024304161.1:p.Leu267His
XR_001747789.2:n.1455T>A
XR_001747790.2:n.1455T>A
XR_247191.3:n.1627T>A
NM_139075.4:c.1523T>A MANE Select NP_620714.2:p.Leu508His