Canonical Allele Identifier: CA381656186
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078923T>C , CM000673.2:g.69078923T>C GRCh38
NC_000011.9:g.68846391T>C , CM000673.1:g.68846391T>C GRCh37
NC_000011.8:g.68602967T>C NCBI36
NG_016153.1:g.35042T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000692585.1:c.299T>C ENSP00000509200.1:p.Leu100Pro
ENST00000294309.8:c.1442T>C MANE Select ENSP00000294309.3:p.Leu481Pro
ENST00000635811.1:c.1442T>C ENSP00000490341.1:p.Leu481Pro
ENST00000637084.1:c.299T>C ENSP00000490615.1:p.Leu100Pro
ENST00000637342.1:c.1442T>C ENSP00000490171.1:p.Leu481Pro
ENST00000637504.1:c.1442T>C ENSP00000489759.1:p.Leu481Pro
ENST00000294309.7:c.1442T>C ENSP00000294309.3:p.Leu481Pro
ENST00000442692.2:n.1035T>C
ENST00000535009.5:n.1251T>C
ENST00000542467.1:c.1442T>C ENSP00000445551.1:p.Leu481Pro
NM_139075.3:c.1442T>C NP_620714.2:p.Leu481Pro
XM_005273824.2:c.1439T>C XP_005273881.1:p.Leu480Pro
XM_005273826.2:c.1187T>C XP_005273883.1:p.Leu396Pro
XM_005273827.2:c.1442T>C XP_005273884.1:p.Leu481Pro
XM_005273828.2:c.1442T>C XP_005273885.1:p.Leu481Pro
XM_005273830.2:c.749T>C XP_005273887.1:p.Leu250Pro
XM_005273831.2:c.749T>C XP_005273888.1:p.Leu250Pro
XM_005273832.2:c.719T>C XP_005273889.1:p.Leu240Pro
XM_006718453.2:c.1442T>C XP_006718516.1:p.Leu481Pro
XM_006718454.2:c.1442T>C XP_006718517.1:p.Leu481Pro
XM_006718456.2:c.1442T>C XP_006718519.1:p.Leu481Pro
XM_011544802.1:c.1202T>C XP_011543104.1:p.Leu401Pro
XM_011544803.1:c.1442T>C XP_011543105.1:p.Leu481Pro
XM_011544804.1:c.1442T>C XP_011543106.1:p.Leu481Pro
XM_011544805.1:c.1442T>C XP_011543107.1:p.Leu481Pro
XM_011544806.1:c.1442T>C XP_011543108.1:p.Leu481Pro
XM_011544807.1:c.746T>C XP_011543109.1:p.Leu249Pro
XM_011544808.1:c.611T>C XP_011543110.1:p.Leu204Pro
XR_247191.1:n.1543T>C
XM_005273824.4:c.1439T>C XP_005273881.1:p.Leu480Pro
XM_005273826.4:c.1187T>C XP_005273883.1:p.Leu396Pro
XM_005273830.4:c.749T>C XP_005273887.1:p.Leu250Pro
XM_005273831.4:c.749T>C XP_005273888.1:p.Leu250Pro
XM_005273832.4:c.719T>C XP_005273889.1:p.Leu240Pro
XM_011544802.3:c.1202T>C XP_011543104.1:p.Leu401Pro
XM_011544807.3:c.746T>C XP_011543109.1:p.Leu249Pro
XM_011544808.3:c.611T>C XP_011543110.1:p.Leu204Pro
XM_017017328.2:c.1273T>C XP_016872817.1:p.Cys425Arg
XM_017017329.2:c.1270T>C XP_016872818.1:p.Cys424Arg
XM_017017330.2:c.719T>C XP_016872819.1:p.Leu240Pro
XM_017017331.2:c.719T>C XP_016872820.1:p.Leu240Pro
XM_017017332.2:c.533T>C XP_016872821.1:p.Leu178Pro
XM_017017333.2:c.550T>C XP_016872822.1:p.Cys184Arg
XM_017017334.2:c.550T>C XP_016872823.1:p.Cys184Arg
XM_017017335.2:c.550T>C XP_016872824.1:p.Cys184Arg
XM_017017336.2:c.442T>C XP_016872825.1:p.Cys148Arg
XM_024448392.1:c.1232T>C XP_024304160.1:p.Leu411Pro
XM_024448393.1:c.719T>C XP_024304161.1:p.Leu240Pro
XR_001747789.2:n.1374T>C
XR_001747790.2:n.1374T>C
XR_247191.3:n.1546T>C
NM_139075.4:c.1442T>C MANE Select NP_620714.2:p.Leu481Pro