Canonical Allele Identifier: CA381655959
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078779G>C , CM000673.2:g.69078779G>C GRCh38
NC_000011.9:g.68846247G>C , CM000673.1:g.68846247G>C GRCh37
NC_000011.8:g.68602823G>C NCBI36
NG_016153.1:g.34898G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.253G>C ENSP00000509200.1:p.Asp85His
ENST00000294309.8:c.1396G>C MANE Select ENSP00000294309.3:p.Asp466His
ENST00000635811.1:c.1396G>C ENSP00000490341.1:p.Asp466His
ENST00000637084.1:c.253G>C ENSP00000490615.1:p.Asp85His
ENST00000637342.1:c.1396G>C ENSP00000490171.1:p.Asp466His
ENST00000637504.1:c.1396G>C ENSP00000489759.1:p.Asp466His
ENST00000294309.7:c.1396G>C ENSP00000294309.3:p.Asp466His
ENST00000442692.2:n.989G>C
ENST00000535009.5:n.1205G>C
ENST00000542467.1:c.1396G>C ENSP00000445551.1:p.Asp466His
NM_139075.3:c.1396G>C NP_620714.2:p.Asp466His
XM_005273824.2:c.1393G>C XP_005273881.1:p.Asp465His
XM_005273826.2:c.1141G>C XP_005273883.1:p.Asp381His
XM_005273827.2:c.1396G>C XP_005273884.1:p.Asp466His
XM_005273828.2:c.1396G>C XP_005273885.1:p.Asp466His
XM_005273830.2:c.703G>C XP_005273887.1:p.Asp235His
XM_005273831.2:c.703G>C XP_005273888.1:p.Asp235His
XM_005273832.2:c.673G>C XP_005273889.1:p.Asp225His
XM_006718453.2:c.1396G>C XP_006718516.1:p.Asp466His
XM_006718454.2:c.1396G>C XP_006718517.1:p.Asp466His
XM_006718456.2:c.1396G>C XP_006718519.1:p.Asp466His
XM_011544802.1:c.1156G>C XP_011543104.1:p.Asp386His
XM_011544803.1:c.1396G>C XP_011543105.1:p.Asp466His
XM_011544804.1:c.1396G>C XP_011543106.1:p.Asp466His
XM_011544805.1:c.1396G>C XP_011543107.1:p.Asp466His
XM_011544806.1:c.1396G>C XP_011543108.1:p.Asp466His
XM_011544807.1:c.700G>C XP_011543109.1:p.Asp234His
XM_011544808.1:c.565G>C XP_011543110.1:p.Asp189His
XR_247191.1:n.1497G>C
XM_005273824.4:c.1393G>C XP_005273881.1:p.Asp465His
XM_005273826.4:c.1141G>C XP_005273883.1:p.Asp381His
XM_005273830.4:c.703G>C XP_005273887.1:p.Asp235His
XM_005273831.4:c.703G>C XP_005273888.1:p.Asp235His
XM_005273832.4:c.673G>C XP_005273889.1:p.Asp225His
XM_011544802.3:c.1156G>C XP_011543104.1:p.Asp386His
XM_011544807.3:c.700G>C XP_011543109.1:p.Asp234His
XM_011544808.3:c.565G>C XP_011543110.1:p.Asp189His
XM_017017328.2:c.1227G>C XP_016872817.1:p.Met409Ile
XM_017017329.2:c.1224G>C XP_016872818.1:p.Met408Ile
XM_017017330.2:c.673G>C XP_016872819.1:p.Asp225His
XM_017017331.2:c.673G>C XP_016872820.1:p.Asp225His
XM_017017332.2:c.487G>C XP_016872821.1:p.Asp163His
XM_017017333.2:c.504G>C XP_016872822.1:p.Met168Ile
XM_017017334.2:c.504G>C XP_016872823.1:p.Met168Ile
XM_017017335.2:c.504G>C XP_016872824.1:p.Met168Ile
XM_017017336.2:c.396G>C XP_016872825.1:p.Met132Ile
XM_024448392.1:c.1186G>C XP_024304160.1:p.Asp396His
XM_024448393.1:c.673G>C XP_024304161.1:p.Asp225His
XR_001747789.2:n.1328G>C
XR_001747790.2:n.1328G>C
XR_247191.3:n.1500G>C
NM_139075.4:c.1396G>C MANE Select NP_620714.2:p.Asp466His