Canonical Allele Identifier: CA114459
Gene: TPCN2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 728
ClinVar RCV Id: RCV000000764
dbSNP Id: rs3829241

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69087895G>A , CM000673.2:g.69087895G>A GRCh38
NC_000011.9:g.68855363G>A , CM000673.1:g.68855363G>A GRCh37
NC_000011.8:g.68611939G>A NCBI36
NG_016153.1:g.44014G>A

Transcript Alleles

HGVS Amino-acid change
NM_139075.3:c.2201G>A VV NP_620714.2:p.Gly734Glu
XM_005273824.2:c.2198G>A XP_005273881.1:p.Gly733Glu
XM_005273826.2:c.1946G>A XP_005273883.1:p.Gly649Glu
XM_005273830.2:c.1508G>A XP_005273887.1:p.Gly503Glu
XM_005273831.2:c.1508G>A XP_005273888.1:p.Gly503Glu
XM_005273832.2:c.1478G>A XP_005273889.1:p.Gly493Glu
XM_006718453.2:c.1639+6396G>A XP_006718516.1:p.=
XM_006718454.2:c.1689+6396G>A XP_006718517.1:p.=
XM_011544802.1:c.1961G>A XP_011543104.1:p.Gly654Glu
XM_011544807.1:c.1505G>A XP_011543109.1:p.Gly502Glu
XM_011544808.1:c.1370G>A XP_011543110.1:p.Gly457Glu
XR_247191.1:n.2252G>A
XM_005273824.4:c.2198G>A XP_005273881.1:p.Gly733Glu
XM_005273826.4:c.1946G>A XP_005273883.1:p.Gly649Glu
XM_005273830.4:c.1508G>A XP_005273887.1:p.Gly503Glu
XM_005273831.4:c.1508G>A XP_005273888.1:p.Gly503Glu
XM_005273832.4:c.1478G>A XP_005273889.1:p.Gly493Glu
XM_011544802.3:c.1961G>A XP_011543104.1:p.Gly654Glu
XM_011544807.3:c.1505G>A XP_011543109.1:p.Gly502Glu
XM_011544808.3:c.1370G>A XP_011543110.1:p.Gly457Glu
XM_017017328.2:c.1982G>A XP_016872817.1:p.Gly661Glu
XM_017017329.2:c.1979G>A XP_016872818.1:p.Gly660Glu
XM_017017330.2:c.1478G>A XP_016872819.1:p.Gly493Glu
XM_017017331.2:c.1478G>A XP_016872820.1:p.Gly493Glu
XM_017017332.2:c.1292G>A XP_016872821.1:p.Gly431Glu
XM_017017333.2:c.1259G>A XP_016872822.1:p.Gly420Glu
XM_017017334.2:c.1259G>A XP_016872823.1:p.Gly420Glu
XM_017017335.2:c.1259G>A XP_016872824.1:p.Gly420Glu
XM_017017336.2:c.1151G>A XP_016872825.1:p.Gly384Glu
XM_024448392.1:c.1991G>A XP_024304160.1:p.Gly664Glu
XM_024448393.1:c.1478G>A XP_024304161.1:p.Gly493Glu
XR_001747789.2:n.2133G>A
XR_247191.3:n.2255G>A
NM_139075.4:c.2201G>A VV MANE Preferred NP_620714.2:p.Gly734Glu
ENST00000294309.7:c.2201G>A ENSP00000294309.3:p.Gly734Glu
ENST00000442692.2:n.1667G>A
ENST00000542467.1:c.1655G>A ENSP00000445551.1:p.Gly552Glu