Canonical Allele Identifier: CA381656438
Gene: TPCN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078980C>T , CM000673.2:g.69078980C>T GRCh38
NC_000011.9:g.68846448C>T , CM000673.1:g.68846448C>T GRCh37
NC_000011.8:g.68603024C>T NCBI36
NG_016153.1:g.35099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692585.1:c.356C>T ENSP00000509200.1:p.Pro119Leu
ENST00000294309.8:c.1499C>T MANE Select ENSP00000294309.3:p.Pro500Leu
ENST00000635811.1:c.1499C>T ENSP00000490341.1:p.Pro500Leu
ENST00000637084.1:c.356C>T ENSP00000490615.1:p.Pro119Leu
ENST00000637342.1:c.1499C>T ENSP00000490171.1:p.Pro500Leu
ENST00000637504.1:c.1499C>T ENSP00000489759.1:p.Pro500Leu
ENST00000294309.7:c.1499C>T ENSP00000294309.3:p.Pro500Leu
ENST00000442692.2:n.1092C>T
ENST00000535009.5:n.1308C>T
ENST00000542467.1:c.1499C>T ENSP00000445551.1:p.Pro500Leu
NM_139075.3:c.1499C>T NP_620714.2:p.Pro500Leu
XM_005273824.2:c.1496C>T XP_005273881.1:p.Pro499Leu
XM_005273826.2:c.1244C>T XP_005273883.1:p.Pro415Leu
XM_005273827.2:c.1499C>T XP_005273884.1:p.Pro500Leu
XM_005273828.2:c.1499C>T XP_005273885.1:p.Pro500Leu
XM_005273830.2:c.806C>T XP_005273887.1:p.Pro269Leu
XM_005273831.2:c.806C>T XP_005273888.1:p.Pro269Leu
XM_005273832.2:c.776C>T XP_005273889.1:p.Pro259Leu
XM_006718453.2:c.1499C>T XP_006718516.1:p.Pro500Leu
XM_006718454.2:c.1499C>T XP_006718517.1:p.Pro500Leu
XM_006718456.2:c.1499C>T XP_006718519.1:p.Pro500Leu
XM_011544802.1:c.1259C>T XP_011543104.1:p.Pro420Leu
XM_011544803.1:c.1499C>T XP_011543105.1:p.Pro500Leu
XM_011544804.1:c.1499C>T XP_011543106.1:p.Pro500Leu
XM_011544805.1:c.1499C>T XP_011543107.1:p.Pro500Leu
XM_011544806.1:c.1499C>T XP_011543108.1:p.Pro500Leu
XM_011544807.1:c.803C>T XP_011543109.1:p.Pro268Leu
XM_011544808.1:c.668C>T XP_011543110.1:p.Pro223Leu
XR_247191.1:n.1600C>T
XM_005273824.4:c.1496C>T XP_005273881.1:p.Pro499Leu
XM_005273826.4:c.1244C>T XP_005273883.1:p.Pro415Leu
XM_005273830.4:c.806C>T XP_005273887.1:p.Pro269Leu
XM_005273831.4:c.806C>T XP_005273888.1:p.Pro269Leu
XM_005273832.4:c.776C>T XP_005273889.1:p.Pro259Leu
XM_011544802.3:c.1259C>T XP_011543104.1:p.Pro420Leu
XM_011544807.3:c.803C>T XP_011543109.1:p.Pro268Leu
XM_011544808.3:c.668C>T XP_011543110.1:p.Pro223Leu
XM_017017328.2:c.1330C>T XP_016872817.1:p.Pro444Ser
XM_017017329.2:c.1327C>T XP_016872818.1:p.Pro443Ser
XM_017017330.2:c.776C>T XP_016872819.1:p.Pro259Leu
XM_017017331.2:c.776C>T XP_016872820.1:p.Pro259Leu
XM_017017332.2:c.590C>T XP_016872821.1:p.Pro197Leu
XM_017017333.2:c.607C>T XP_016872822.1:p.Pro203Ser
XM_017017334.2:c.607C>T XP_016872823.1:p.Pro203Ser
XM_017017335.2:c.607C>T XP_016872824.1:p.Pro203Ser
XM_017017336.2:c.499C>T XP_016872825.1:p.Pro167Ser
XM_024448392.1:c.1289C>T XP_024304160.1:p.Pro430Leu
XM_024448393.1:c.776C>T XP_024304161.1:p.Pro259Leu
XR_001747789.2:n.1431C>T
XR_001747790.2:n.1431C>T
XR_247191.3:n.1603C>T
NM_139075.4:c.1499C>T MANE Select NP_620714.2:p.Pro500Leu