Canonical Allele Identifier: CA381656331
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078953T>G , CM000673.2:g.69078953T>G GRCh38
NC_000011.9:g.68846421T>G , CM000673.1:g.68846421T>G GRCh37
NC_000011.8:g.68602997T>G NCBI36
NG_016153.1:g.35072T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000692585.1:c.329T>G ENSP00000509200.1:p.Leu110Arg
ENST00000294309.8:c.1472T>G MANE Select ENSP00000294309.3:p.Leu491Arg
ENST00000635811.1:c.1472T>G ENSP00000490341.1:p.Leu491Arg
ENST00000637084.1:c.329T>G ENSP00000490615.1:p.Leu110Arg
ENST00000637342.1:c.1472T>G ENSP00000490171.1:p.Leu491Arg
ENST00000637504.1:c.1472T>G ENSP00000489759.1:p.Leu491Arg
ENST00000294309.7:c.1472T>G ENSP00000294309.3:p.Leu491Arg
ENST00000442692.2:n.1065T>G
ENST00000535009.5:n.1281T>G
ENST00000542467.1:c.1472T>G ENSP00000445551.1:p.Leu491Arg
NM_139075.3:c.1472T>G NP_620714.2:p.Leu491Arg
XM_005273824.2:c.1469T>G XP_005273881.1:p.Leu490Arg
XM_005273826.2:c.1217T>G XP_005273883.1:p.Leu406Arg
XM_005273827.2:c.1472T>G XP_005273884.1:p.Leu491Arg
XM_005273828.2:c.1472T>G XP_005273885.1:p.Leu491Arg
XM_005273830.2:c.779T>G XP_005273887.1:p.Leu260Arg
XM_005273831.2:c.779T>G XP_005273888.1:p.Leu260Arg
XM_005273832.2:c.749T>G XP_005273889.1:p.Leu250Arg
XM_006718453.2:c.1472T>G XP_006718516.1:p.Leu491Arg
XM_006718454.2:c.1472T>G XP_006718517.1:p.Leu491Arg
XM_006718456.2:c.1472T>G XP_006718519.1:p.Leu491Arg
XM_011544802.1:c.1232T>G XP_011543104.1:p.Leu411Arg
XM_011544803.1:c.1472T>G XP_011543105.1:p.Leu491Arg
XM_011544804.1:c.1472T>G XP_011543106.1:p.Leu491Arg
XM_011544805.1:c.1472T>G XP_011543107.1:p.Leu491Arg
XM_011544806.1:c.1472T>G XP_011543108.1:p.Leu491Arg
XM_011544807.1:c.776T>G XP_011543109.1:p.Leu259Arg
XM_011544808.1:c.641T>G XP_011543110.1:p.Leu214Arg
XR_247191.1:n.1573T>G
XM_005273824.4:c.1469T>G XP_005273881.1:p.Leu490Arg
XM_005273826.4:c.1217T>G XP_005273883.1:p.Leu406Arg
XM_005273830.4:c.779T>G XP_005273887.1:p.Leu260Arg
XM_005273831.4:c.779T>G XP_005273888.1:p.Leu260Arg
XM_005273832.4:c.749T>G XP_005273889.1:p.Leu250Arg
XM_011544802.3:c.1232T>G XP_011543104.1:p.Leu411Arg
XM_011544807.3:c.776T>G XP_011543109.1:p.Leu259Arg
XM_011544808.3:c.641T>G XP_011543110.1:p.Leu214Arg
XM_017017328.2:c.1303T>G XP_016872817.1:p.Trp435Gly
XM_017017329.2:c.1300T>G XP_016872818.1:p.Trp434Gly
XM_017017330.2:c.749T>G XP_016872819.1:p.Leu250Arg
XM_017017331.2:c.749T>G XP_016872820.1:p.Leu250Arg
XM_017017332.2:c.563T>G XP_016872821.1:p.Leu188Arg
XM_017017333.2:c.580T>G XP_016872822.1:p.Trp194Gly
XM_017017334.2:c.580T>G XP_016872823.1:p.Trp194Gly
XM_017017335.2:c.580T>G XP_016872824.1:p.Trp194Gly
XM_017017336.2:c.472T>G XP_016872825.1:p.Trp158Gly
XM_024448392.1:c.1262T>G XP_024304160.1:p.Leu421Arg
XM_024448393.1:c.749T>G XP_024304161.1:p.Leu250Arg
XR_001747789.2:n.1404T>G
XR_001747790.2:n.1404T>G
XR_247191.3:n.1576T>G
NM_139075.4:c.1472T>G MANE Select NP_620714.2:p.Leu491Arg