Canonical Allele Identifier: CA381655829
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078588T>G , CM000673.2:g.69078588T>G GRCh38
NC_000011.9:g.68846056T>G , CM000673.1:g.68846056T>G GRCh37
NC_000011.8:g.68602632T>G NCBI36
NG_016153.1:g.34707T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.194T>G ENSP00000509200.1:p.Leu65Arg
ENST00000294309.8:c.1337T>G MANE Select ENSP00000294309.3:p.Leu446Arg
ENST00000635811.1:c.1337T>G ENSP00000490341.1:p.Leu446Arg
ENST00000637084.1:c.194T>G ENSP00000490615.1:p.Leu65Arg
ENST00000637342.1:c.1337T>G ENSP00000490171.1:p.Leu446Arg
ENST00000637504.1:c.1337T>G ENSP00000489759.1:p.Leu446Arg
ENST00000294309.7:c.1337T>G ENSP00000294309.3:p.Leu446Arg
ENST00000442692.2:n.930T>G
ENST00000535009.5:n.1146T>G
ENST00000542467.1:c.1337T>G ENSP00000445551.1:p.Leu446Arg
NM_139075.3:c.1337T>G NP_620714.2:p.Leu446Arg
XM_005273824.2:c.1334T>G XP_005273881.1:p.Leu445Arg
XM_005273826.2:c.1082T>G XP_005273883.1:p.Leu361Arg
XM_005273827.2:c.1337T>G XP_005273884.1:p.Leu446Arg
XM_005273828.2:c.1337T>G XP_005273885.1:p.Leu446Arg
XM_005273830.2:c.644T>G XP_005273887.1:p.Leu215Arg
XM_005273831.2:c.644T>G XP_005273888.1:p.Leu215Arg
XM_005273832.2:c.614T>G XP_005273889.1:p.Leu205Arg
XM_006718453.2:c.1337T>G XP_006718516.1:p.Leu446Arg
XM_006718454.2:c.1337T>G XP_006718517.1:p.Leu446Arg
XM_006718456.2:c.1337T>G XP_006718519.1:p.Leu446Arg
XM_011544802.1:c.1097T>G XP_011543104.1:p.Leu366Arg
XM_011544803.1:c.1337T>G XP_011543105.1:p.Leu446Arg
XM_011544804.1:c.1337T>G XP_011543106.1:p.Leu446Arg
XM_011544805.1:c.1337T>G XP_011543107.1:p.Leu446Arg
XM_011544806.1:c.1337T>G XP_011543108.1:p.Leu446Arg
XM_011544807.1:c.641T>G XP_011543109.1:p.Leu214Arg
XM_011544808.1:c.506T>G XP_011543110.1:p.Leu169Arg
XR_247191.1:n.1438T>G
XM_005273824.4:c.1334T>G XP_005273881.1:p.Leu445Arg
XM_005273826.4:c.1082T>G XP_005273883.1:p.Leu361Arg
XM_005273830.4:c.644T>G XP_005273887.1:p.Leu215Arg
XM_005273831.4:c.644T>G XP_005273888.1:p.Leu215Arg
XM_005273832.4:c.614T>G XP_005273889.1:p.Leu205Arg
XM_011544802.3:c.1097T>G XP_011543104.1:p.Leu366Arg
XM_011544807.3:c.641T>G XP_011543109.1:p.Leu214Arg
XM_011544808.3:c.506T>G XP_011543110.1:p.Leu169Arg
XM_017017328.2:c.1168T>G XP_016872817.1:p.Trp390Gly
XM_017017329.2:c.1165T>G XP_016872818.1:p.Trp389Gly
XM_017017330.2:c.614T>G XP_016872819.1:p.Leu205Arg
XM_017017331.2:c.614T>G XP_016872820.1:p.Leu205Arg
XM_017017332.2:c.428T>G XP_016872821.1:p.Leu143Arg
XM_017017333.2:c.445T>G XP_016872822.1:p.Trp149Gly
XM_017017334.2:c.445T>G XP_016872823.1:p.Trp149Gly
XM_017017335.2:c.445T>G XP_016872824.1:p.Trp149Gly
XM_017017336.2:c.337T>G XP_016872825.1:p.Trp113Gly
XM_024448392.1:c.1127T>G XP_024304160.1:p.Leu376Arg
XM_024448393.1:c.614T>G XP_024304161.1:p.Leu205Arg
XR_001747789.2:n.1269T>G
XR_001747790.2:n.1269T>G
XR_247191.3:n.1441T>G
NM_139075.4:c.1337T>G MANE Select NP_620714.2:p.Leu446Arg