Canonical Allele Identifier: CA114457
Gene: TPCN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 727
ClinVar RCV Id: RCV000000763
dbSNP Id: rs35264875

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69078931A>T , CM000673.2:g.69078931A>T GRCh38
NC_000011.9:g.68846399A>T , CM000673.1:g.68846399A>T GRCh37
NC_000011.8:g.68602975A>T NCBI36
NG_016153.1:g.35050A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000692585.1:c.307A>T ENSP00000509200.1:p.Met103Leu
ENST00000294309.8:c.1450A>T MANE Select ENSP00000294309.3:p.Met484Leu
ENST00000635811.1:c.1450A>T ENSP00000490341.1:p.Met484Leu
ENST00000637084.1:c.307A>T ENSP00000490615.1:p.Met103Leu
ENST00000637342.1:c.1450A>T ENSP00000490171.1:p.Met484Leu
ENST00000637504.1:c.1450A>T ENSP00000489759.1:p.Met484Leu
ENST00000294309.7:c.1450A>T ENSP00000294309.3:p.Met484Leu
ENST00000442692.2:n.1043A>T
ENST00000535009.5:n.1259A>T
ENST00000542467.1:c.1450A>T ENSP00000445551.1:p.Met484Leu
NM_139075.3:c.1450A>T NP_620714.2:p.Met484Leu
XM_005273824.2:c.1447A>T XP_005273881.1:p.Met483Leu
XM_005273826.2:c.1195A>T XP_005273883.1:p.Met399Leu
XM_005273827.2:c.1450A>T XP_005273884.1:p.Met484Leu
XM_005273828.2:c.1450A>T XP_005273885.1:p.Met484Leu
XM_005273830.2:c.757A>T XP_005273887.1:p.Met253Leu
XM_005273831.2:c.757A>T XP_005273888.1:p.Met253Leu
XM_005273832.2:c.727A>T XP_005273889.1:p.Met243Leu
XM_006718453.2:c.1450A>T XP_006718516.1:p.Met484Leu
XM_006718454.2:c.1450A>T XP_006718517.1:p.Met484Leu
XM_006718456.2:c.1450A>T XP_006718519.1:p.Met484Leu
XM_011544802.1:c.1210A>T XP_011543104.1:p.Met404Leu
XM_011544803.1:c.1450A>T XP_011543105.1:p.Met484Leu
XM_011544804.1:c.1450A>T XP_011543106.1:p.Met484Leu
XM_011544805.1:c.1450A>T XP_011543107.1:p.Met484Leu
XM_011544806.1:c.1450A>T XP_011543108.1:p.Met484Leu
XM_011544807.1:c.754A>T XP_011543109.1:p.Met252Leu
XM_011544808.1:c.619A>T XP_011543110.1:p.Met207Leu
XR_247191.1:n.1551A>T
XM_005273824.4:c.1447A>T XP_005273881.1:p.Met483Leu
XM_005273826.4:c.1195A>T XP_005273883.1:p.Met399Leu
XM_005273830.4:c.757A>T XP_005273887.1:p.Met253Leu
XM_005273831.4:c.757A>T XP_005273888.1:p.Met253Leu
XM_005273832.4:c.727A>T XP_005273889.1:p.Met243Leu
XM_011544802.3:c.1210A>T XP_011543104.1:p.Met404Leu
XM_011544807.3:c.754A>T XP_011543109.1:p.Met252Leu
XM_011544808.3:c.619A>T XP_011543110.1:p.Met207Leu
XM_017017328.2:c.1281A>T XP_016872817.1:p.Arg427Ser
XM_017017329.2:c.1278A>T XP_016872818.1:p.Arg426Ser
XM_017017330.2:c.727A>T XP_016872819.1:p.Met243Leu
XM_017017331.2:c.727A>T XP_016872820.1:p.Met243Leu
XM_017017332.2:c.541A>T XP_016872821.1:p.Met181Leu
XM_017017333.2:c.558A>T XP_016872822.1:p.Arg186Ser
XM_017017334.2:c.558A>T XP_016872823.1:p.Arg186Ser
XM_017017335.2:c.558A>T XP_016872824.1:p.Arg186Ser
XM_017017336.2:c.450A>T XP_016872825.1:p.Arg150Ser
XM_024448392.1:c.1240A>T XP_024304160.1:p.Met414Leu
XM_024448393.1:c.727A>T XP_024304161.1:p.Met243Leu
XR_001747789.2:n.1382A>T
XR_001747790.2:n.1382A>T
XR_247191.3:n.1554A>T
NM_139075.4:c.1450A>T MANE Select NP_620714.2:p.Met484Leu