Canonical Allele Identifier: CA475209945
Gene: TPCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68846473C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69079005C>T , CM000673.2:g.69079005C>T GRCh38
NC_000011.9:g.68846473C>T , CM000673.1:g.68846473C>T GRCh37
NC_000011.8:g.68603049C>T NCBI36
NG_016153.1:g.35124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.381C>T ENSP00000509200.1:p.Leu127=
ENST00000294309.8:c.1524C>T MANE Select ENSP00000294309.3:p.Leu508=
ENST00000635811.1:c.1524C>T ENSP00000490341.1:p.Leu508=
ENST00000637084.1:c.381C>T ENSP00000490615.1:p.Leu127=
ENST00000637342.1:c.1524C>T ENSP00000490171.1:p.Leu508=
ENST00000637504.1:c.1524C>T ENSP00000489759.1:p.Leu508=
ENST00000294309.7:c.1524C>T ENSP00000294309.3:p.Leu508=
ENST00000442692.2:n.1117C>T
ENST00000535009.5:n.1333C>T
ENST00000542467.1:c.1524C>T ENSP00000445551.1:p.Leu508=
NM_139075.3:c.1524C>T NP_620714.2:p.Leu508=
XM_005273824.2:c.1521C>T XP_005273881.1:p.Leu507=
XM_005273826.2:c.1269C>T XP_005273883.1:p.Leu423=
XM_005273827.2:c.1524C>T XP_005273884.1:p.Leu508=
XM_005273828.2:c.1524C>T XP_005273885.1:p.Leu508=
XM_005273830.2:c.831C>T XP_005273887.1:p.Leu277=
XM_005273831.2:c.831C>T XP_005273888.1:p.Leu277=
XM_005273832.2:c.801C>T XP_005273889.1:p.Leu267=
XM_006718453.2:c.1524C>T XP_006718516.1:p.Leu508=
XM_006718454.2:c.1524C>T XP_006718517.1:p.Leu508=
XM_006718456.2:c.1524C>T XP_006718519.1:p.Leu508=
XM_011544802.1:c.1284C>T XP_011543104.1:p.Leu428=
XM_011544803.1:c.1524C>T XP_011543105.1:p.Leu508=
XM_011544804.1:c.1524C>T XP_011543106.1:p.Leu508=
XM_011544805.1:c.1524C>T XP_011543107.1:p.Leu508=
XM_011544806.1:c.1524C>T XP_011543108.1:p.Leu508=
XM_011544807.1:c.828C>T XP_011543109.1:p.Leu276=
XM_011544808.1:c.693C>T XP_011543110.1:p.Leu231=
XR_247191.1:n.1625C>T
XM_005273824.4:c.1521C>T XP_005273881.1:p.Leu507=
XM_005273826.4:c.1269C>T XP_005273883.1:p.Leu423=
XM_005273830.4:c.831C>T XP_005273887.1:p.Leu277=
XM_005273831.4:c.831C>T XP_005273888.1:p.Leu277=
XM_005273832.4:c.801C>T XP_005273889.1:p.Leu267=
XM_011544802.3:c.1284C>T XP_011543104.1:p.Leu428=
XM_011544807.3:c.828C>T XP_011543109.1:p.Leu276=
XM_011544808.3:c.693C>T XP_011543110.1:p.Leu231=
XM_017017328.2:c.1355C>T XP_016872817.1:p.Ser452Leu
XM_017017329.2:c.1352C>T XP_016872818.1:p.Ser451Leu
XM_017017330.2:c.801C>T XP_016872819.1:p.Leu267=
XM_017017331.2:c.801C>T XP_016872820.1:p.Leu267=
XM_017017332.2:c.615C>T XP_016872821.1:p.Leu205=
XM_017017333.2:c.632C>T XP_016872822.1:p.Ser211Leu
XM_017017334.2:c.632C>T XP_016872823.1:p.Ser211Leu
XM_017017335.2:c.632C>T XP_016872824.1:p.Ser211Leu
XM_017017336.2:c.524C>T XP_016872825.1:p.Ser175Leu
XM_024448392.1:c.1314C>T XP_024304160.1:p.Leu438=
XM_024448393.1:c.801C>T XP_024304161.1:p.Leu267=
XR_001747789.2:n.1456C>T
XR_001747790.2:n.1456C>T
XR_247191.3:n.1628C>T
NM_139075.4:c.1524C>T MANE Select NP_620714.2:p.Leu508=