Canonical Allele Identifier: CA475209824
Gene: TPCN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68846066T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078598T>C , CM000673.2:g.69078598T>C GRCh38
NC_000011.9:g.68846066T>C , CM000673.1:g.68846066T>C GRCh37
NC_000011.8:g.68602642T>C NCBI36
NG_016153.1:g.34717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.204T>C ENSP00000509200.1:p.Ile68=
ENST00000294309.8:c.1347T>C MANE Select ENSP00000294309.3:p.Ile449=
ENST00000635811.1:c.1347T>C ENSP00000490341.1:p.Ile449=
ENST00000637084.1:c.204T>C ENSP00000490615.1:p.Ile68=
ENST00000637342.1:c.1347T>C ENSP00000490171.1:p.Ile449=
ENST00000637504.1:c.1347T>C ENSP00000489759.1:p.Ile449=
ENST00000294309.7:c.1347T>C ENSP00000294309.3:p.Ile449=
ENST00000442692.2:n.940T>C
ENST00000535009.5:n.1156T>C
ENST00000542467.1:c.1347T>C ENSP00000445551.1:p.Ile449=
NM_139075.3:c.1347T>C NP_620714.2:p.Ile449=
XM_005273824.2:c.1344T>C XP_005273881.1:p.Ile448=
XM_005273826.2:c.1092T>C XP_005273883.1:p.Ile364=
XM_005273827.2:c.1347T>C XP_005273884.1:p.Ile449=
XM_005273828.2:c.1347T>C XP_005273885.1:p.Ile449=
XM_005273830.2:c.654T>C XP_005273887.1:p.Ile218=
XM_005273831.2:c.654T>C XP_005273888.1:p.Ile218=
XM_005273832.2:c.624T>C XP_005273889.1:p.Ile208=
XM_006718453.2:c.1347T>C XP_006718516.1:p.Ile449=
XM_006718454.2:c.1347T>C XP_006718517.1:p.Ile449=
XM_006718456.2:c.1347T>C XP_006718519.1:p.Ile449=
XM_011544802.1:c.1107T>C XP_011543104.1:p.Ile369=
XM_011544803.1:c.1347T>C XP_011543105.1:p.Ile449=
XM_011544804.1:c.1347T>C XP_011543106.1:p.Ile449=
XM_011544805.1:c.1347T>C XP_011543107.1:p.Ile449=
XM_011544806.1:c.1347T>C XP_011543108.1:p.Ile449=
XM_011544807.1:c.651T>C XP_011543109.1:p.Ile217=
XM_011544808.1:c.516T>C XP_011543110.1:p.Ile172=
XR_247191.1:n.1448T>C
XM_005273824.4:c.1344T>C XP_005273881.1:p.Ile448=
XM_005273826.4:c.1092T>C XP_005273883.1:p.Ile364=
XM_005273830.4:c.654T>C XP_005273887.1:p.Ile218=
XM_005273831.4:c.654T>C XP_005273888.1:p.Ile218=
XM_005273832.4:c.624T>C XP_005273889.1:p.Ile208=
XM_011544802.3:c.1107T>C XP_011543104.1:p.Ile369=
XM_011544807.3:c.651T>C XP_011543109.1:p.Ile217=
XM_011544808.3:c.516T>C XP_011543110.1:p.Ile172=
XM_017017328.2:c.1178T>C XP_016872817.1:p.Phe393Ser
XM_017017329.2:c.1175T>C XP_016872818.1:p.Phe392Ser
XM_017017330.2:c.624T>C XP_016872819.1:p.Ile208=
XM_017017331.2:c.624T>C XP_016872820.1:p.Ile208=
XM_017017332.2:c.438T>C XP_016872821.1:p.Ile146=
XM_017017333.2:c.455T>C XP_016872822.1:p.Phe152Ser
XM_017017334.2:c.455T>C XP_016872823.1:p.Phe152Ser
XM_017017335.2:c.455T>C XP_016872824.1:p.Phe152Ser
XM_017017336.2:c.347T>C XP_016872825.1:p.Phe116Ser
XM_024448392.1:c.1137T>C XP_024304160.1:p.Ile379=
XM_024448393.1:c.624T>C XP_024304161.1:p.Ile208=
XR_001747789.2:n.1279T>C
XR_001747790.2:n.1279T>C
XR_247191.3:n.1451T>C
NM_139075.4:c.1347T>C MANE Select NP_620714.2:p.Ile449=