Canonical Allele Identifier: CA381652147
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69087904A>T , CM000673.2:g.69087904A>T GRCh38
NC_000011.9:g.68855372A>T , CM000673.1:g.68855372A>T GRCh37
NC_000011.8:g.68611948A>T NCBI36
NG_016153.1:g.44023A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000692585.1:c.1067A>T ENSP00000509200.1:p.Glu356Val
ENST00000294309.8:c.2210A>T MANE Select ENSP00000294309.3:p.Glu737Val
ENST00000635811.1:c.*405A>T ENSP00000490341.1:n.*405A>T
ENST00000637084.1:c.1067A>T ENSP00000490615.1:p.Glu356Val
ENST00000637342.1:c.2003+1974A>T ENSP00000490171.1:n.2003+1974A>T
ENST00000637504.1:c.*33+2618A>T ENSP00000489759.1:n.*33+2618A>T
ENST00000294309.7:c.2210A>T ENSP00000294309.3:p.Glu737Val
ENST00000442692.2:n.1676A>T
ENST00000542467.1:c.1664A>T ENSP00000445551.1:p.Glu555Val
NM_139075.3:c.2210A>T NP_620714.2:p.Glu737Val
XM_005273824.2:c.2207A>T XP_005273881.1:p.Glu736Val
XM_005273826.2:c.1955A>T XP_005273883.1:p.Glu652Val
XM_005273830.2:c.1517A>T XP_005273887.1:p.Glu506Val
XM_005273831.2:c.1517A>T XP_005273888.1:p.Glu506Val
XM_005273832.2:c.1487A>T XP_005273889.1:p.Glu496Val
XM_006718453.2:c.1639+6405A>T XP_006718516.1:n.1639+6405A>T
XM_006718454.2:c.1689+6405A>T XP_006718517.1:n.1689+6405A>T
XM_011544802.1:c.1970A>T XP_011543104.1:p.Glu657Val
XM_011544807.1:c.1514A>T XP_011543109.1:p.Glu505Val
XM_011544808.1:c.1379A>T XP_011543110.1:p.Glu460Val
XR_247191.1:n.2261A>T
XM_005273824.4:c.2207A>T XP_005273881.1:p.Glu736Val
XM_005273826.4:c.1955A>T XP_005273883.1:p.Glu652Val
XM_005273830.4:c.1517A>T XP_005273887.1:p.Glu506Val
XM_005273831.4:c.1517A>T XP_005273888.1:p.Glu506Val
XM_005273832.4:c.1487A>T XP_005273889.1:p.Glu496Val
XM_011544802.3:c.1970A>T XP_011543104.1:p.Glu657Val
XM_011544807.3:c.1514A>T XP_011543109.1:p.Glu505Val
XM_011544808.3:c.1379A>T XP_011543110.1:p.Glu460Val
XM_017017328.2:c.1991A>T XP_016872817.1:p.Glu664Val
XM_017017329.2:c.1988A>T XP_016872818.1:p.Glu663Val
XM_017017330.2:c.1487A>T XP_016872819.1:p.Glu496Val
XM_017017331.2:c.1487A>T XP_016872820.1:p.Glu496Val
XM_017017332.2:c.1301A>T XP_016872821.1:p.Glu434Val
XM_017017333.2:c.1268A>T XP_016872822.1:p.Glu423Val
XM_017017334.2:c.1268A>T XP_016872823.1:p.Glu423Val
XM_017017335.2:c.1268A>T XP_016872824.1:p.Glu423Val
XM_017017336.2:c.1160A>T XP_016872825.1:p.Glu387Val
XM_024448392.1:c.2000A>T XP_024304160.1:p.Glu667Val
XM_024448393.1:c.1487A>T XP_024304161.1:p.Glu496Val
XR_001747789.2:n.2142A>T
XR_247191.3:n.2264A>T
NM_139075.4:c.2210A>T MANE Select NP_620714.2:p.Glu737Val