Canonical Allele Identifier: CA381652135
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69087900G>C , CM000673.2:g.69087900G>C GRCh38
NC_000011.9:g.68855368G>C , CM000673.1:g.68855368G>C GRCh37
NC_000011.8:g.68611944G>C NCBI36
NG_016153.1:g.44019G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000692585.1:c.1063G>C ENSP00000509200.1:p.Asp355His
ENST00000294309.8:c.2206G>C MANE Select ENSP00000294309.3:p.Asp736His
ENST00000635811.1:c.*401G>C ENSP00000490341.1:n.*401G>C
ENST00000637084.1:c.1063G>C ENSP00000490615.1:p.Asp355His
ENST00000637342.1:c.2003+1970G>C ENSP00000490171.1:n.2003+1970G>C
ENST00000637504.1:c.*33+2614G>C ENSP00000489759.1:n.*33+2614G>C
ENST00000294309.7:c.2206G>C ENSP00000294309.3:p.Asp736His
ENST00000442692.2:n.1672G>C
ENST00000542467.1:c.1660G>C ENSP00000445551.1:p.Asp554His
NM_139075.3:c.2206G>C NP_620714.2:p.Asp736His
XM_005273824.2:c.2203G>C XP_005273881.1:p.Asp735His
XM_005273826.2:c.1951G>C XP_005273883.1:p.Asp651His
XM_005273830.2:c.1513G>C XP_005273887.1:p.Asp505His
XM_005273831.2:c.1513G>C XP_005273888.1:p.Asp505His
XM_005273832.2:c.1483G>C XP_005273889.1:p.Asp495His
XM_006718453.2:c.1639+6401G>C XP_006718516.1:n.1639+6401G>C
XM_006718454.2:c.1689+6401G>C XP_006718517.1:n.1689+6401G>C
XM_011544802.1:c.1966G>C XP_011543104.1:p.Asp656His
XM_011544807.1:c.1510G>C XP_011543109.1:p.Asp504His
XM_011544808.1:c.1375G>C XP_011543110.1:p.Asp459His
XR_247191.1:n.2257G>C
XM_005273824.4:c.2203G>C XP_005273881.1:p.Asp735His
XM_005273826.4:c.1951G>C XP_005273883.1:p.Asp651His
XM_005273830.4:c.1513G>C XP_005273887.1:p.Asp505His
XM_005273831.4:c.1513G>C XP_005273888.1:p.Asp505His
XM_005273832.4:c.1483G>C XP_005273889.1:p.Asp495His
XM_011544802.3:c.1966G>C XP_011543104.1:p.Asp656His
XM_011544807.3:c.1510G>C XP_011543109.1:p.Asp504His
XM_011544808.3:c.1375G>C XP_011543110.1:p.Asp459His
XM_017017328.2:c.1987G>C XP_016872817.1:p.Asp663His
XM_017017329.2:c.1984G>C XP_016872818.1:p.Asp662His
XM_017017330.2:c.1483G>C XP_016872819.1:p.Asp495His
XM_017017331.2:c.1483G>C XP_016872820.1:p.Asp495His
XM_017017332.2:c.1297G>C XP_016872821.1:p.Asp433His
XM_017017333.2:c.1264G>C XP_016872822.1:p.Asp422His
XM_017017334.2:c.1264G>C XP_016872823.1:p.Asp422His
XM_017017335.2:c.1264G>C XP_016872824.1:p.Asp422His
XM_017017336.2:c.1156G>C XP_016872825.1:p.Asp386His
XM_024448392.1:c.1996G>C XP_024304160.1:p.Asp666His
XM_024448393.1:c.1483G>C XP_024304161.1:p.Asp495His
XR_001747789.2:n.2138G>C
XR_247191.3:n.2260G>C
NM_139075.4:c.2206G>C MANE Select NP_620714.2:p.Asp736His