Canonical Allele Identifier: CA381652094
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69087880T>G , CM000673.2:g.69087880T>G GRCh38
NC_000011.9:g.68855348T>G , CM000673.1:g.68855348T>G GRCh37
NC_000011.8:g.68611924T>G NCBI36
NG_016153.1:g.43999T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.1043T>G ENSP00000509200.1:p.Ile348Ser
ENST00000294309.8:c.2186T>G MANE Select ENSP00000294309.3:p.Ile729Ser
ENST00000635811.1:c.*381T>G ENSP00000490341.1:n.*381T>G
ENST00000637084.1:c.1043T>G ENSP00000490615.1:p.Ile348Ser
ENST00000637342.1:c.2003+1950T>G ENSP00000490171.1:n.2003+1950T>G
ENST00000637504.1:c.*33+2594T>G ENSP00000489759.1:n.*33+2594T>G
ENST00000294309.7:c.2186T>G ENSP00000294309.3:p.Ile729Ser
ENST00000442692.2:n.1652T>G
ENST00000542467.1:c.1640T>G ENSP00000445551.1:p.Ile547Ser
NM_139075.3:c.2186T>G NP_620714.2:p.Ile729Ser
XM_005273824.2:c.2183T>G XP_005273881.1:p.Ile728Ser
XM_005273826.2:c.1931T>G XP_005273883.1:p.Ile644Ser
XM_005273830.2:c.1493T>G XP_005273887.1:p.Ile498Ser
XM_005273831.2:c.1493T>G XP_005273888.1:p.Ile498Ser
XM_005273832.2:c.1463T>G XP_005273889.1:p.Ile488Ser
XM_006718453.2:c.1639+6381T>G XP_006718516.1:n.1639+6381T>G
XM_006718454.2:c.1689+6381T>G XP_006718517.1:n.1689+6381T>G
XM_011544802.1:c.1946T>G XP_011543104.1:p.Ile649Ser
XM_011544807.1:c.1490T>G XP_011543109.1:p.Ile497Ser
XM_011544808.1:c.1355T>G XP_011543110.1:p.Ile452Ser
XR_247191.1:n.2237T>G
XM_005273824.4:c.2183T>G XP_005273881.1:p.Ile728Ser
XM_005273826.4:c.1931T>G XP_005273883.1:p.Ile644Ser
XM_005273830.4:c.1493T>G XP_005273887.1:p.Ile498Ser
XM_005273831.4:c.1493T>G XP_005273888.1:p.Ile498Ser
XM_005273832.4:c.1463T>G XP_005273889.1:p.Ile488Ser
XM_011544802.3:c.1946T>G XP_011543104.1:p.Ile649Ser
XM_011544807.3:c.1490T>G XP_011543109.1:p.Ile497Ser
XM_011544808.3:c.1355T>G XP_011543110.1:p.Ile452Ser
XM_017017328.2:c.1967T>G XP_016872817.1:p.Ile656Ser
XM_017017329.2:c.1964T>G XP_016872818.1:p.Ile655Ser
XM_017017330.2:c.1463T>G XP_016872819.1:p.Ile488Ser
XM_017017331.2:c.1463T>G XP_016872820.1:p.Ile488Ser
XM_017017332.2:c.1277T>G XP_016872821.1:p.Ile426Ser
XM_017017333.2:c.1244T>G XP_016872822.1:p.Ile415Ser
XM_017017334.2:c.1244T>G XP_016872823.1:p.Ile415Ser
XM_017017335.2:c.1244T>G XP_016872824.1:p.Ile415Ser
XM_017017336.2:c.1136T>G XP_016872825.1:p.Ile379Ser
XM_024448392.1:c.1976T>G XP_024304160.1:p.Ile659Ser
XM_024448393.1:c.1463T>G XP_024304161.1:p.Ile488Ser
XR_001747789.2:n.2118T>G
XR_247191.3:n.2240T>G
NM_139075.4:c.2186T>G MANE Select NP_620714.2:p.Ile729Ser