Canonical Allele Identifier: CA8698231
Community Standard Title: NM_001394998.1(TANC2):c.4370G>A (p.Arg1457Lys)
Gene: TANC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63420100G>A , CM000679.2:g.63420100G>A GRCh38
NC_000017.10:g.61497461G>A , CM000679.1:g.61497461G>A GRCh37
NC_000017.9:g.58851193G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394998.1:c.4370G>A MANE Select NP_001381927.1:p.Arg1457Lys
ENST00000689528.1:c.4370G>A MANE Select ENSP00000510600.1:p.Arg1457Lys
NM_025185.3:c.4118G>A NP_079461.2:p.Arg1373Lys
NM_025185.4:c.4118G>A NP_079461.2:p.Arg1373Lys
ENST00000389520.8:c.4148G>A ENSP00000374171.4:p.Arg1383Lys
ENST00000424789.6:c.4118G>A ENSP00000387593.2:p.Arg1373Lys
ENST00000583356.5:c.3803G>A
ENST00000613171.4:c.1448G>A ENSP00000478576.1:p.Arg483Lys
XM_005257203.3:c.4118G>A XP_005257260.1:p.Arg1373Lys
XM_005257203.4:c.4118G>A XP_005257260.1:p.Arg1373Lys
XM_006721806.2:c.4370G>A XP_006721869.1:p.Arg1457Lys
XM_006721806.3:c.4370G>A XP_006721869.1:p.Arg1457Lys
XM_006721807.2:c.4340G>A XP_006721870.1:p.Arg1447Lys
XM_006721807.3:c.4340G>A XP_006721870.1:p.Arg1447Lys
XM_006721810.2:c.*39G>A XP_006721873.1:n.*39G>A
XM_006721810.3:c.*39G>A XP_006721873.1:n.*39G>A
XM_006721811.2:c.*39G>A XP_006721874.1:n.*39G>A
XM_006721811.4:c.*39G>A XP_006721874.1:n.*39G>A
XM_011524597.1:c.4373G>A XP_011522899.1:p.Arg1458Lys
XM_011524597.2:c.4373G>A XP_011522899.1:p.Arg1458Lys
XM_011524598.1:c.4343G>A XP_011522900.1:p.Arg1448Lys
XM_011524598.2:c.4343G>A XP_011522900.1:p.Arg1448Lys
XM_011524599.1:c.4325G>A XP_011522901.1:p.Arg1442Lys
XM_011524600.1:c.4262G>A XP_011522902.1:p.Arg1421Lys
XM_011524600.2:c.4262G>A XP_011522902.1:p.Arg1421Lys
XM_011524601.1:c.4262G>A XP_011522903.1:p.Arg1421Lys
XM_011524601.2:c.4262G>A XP_011522903.1:p.Arg1421Lys
XM_011524602.1:c.4151G>A XP_011522904.1:p.Arg1384Lys
XM_011524602.2:c.4151G>A XP_011522904.1:p.Arg1384Lys
XM_011524603.1:c.3881G>A XP_011522905.1:p.Arg1294Lys
XM_011524604.1:c.1223G>A XP_011522906.1:p.Arg408Lys
XM_017024429.1:c.4292G>A XP_016879918.1:p.Arg1431Lys
XM_017024430.2:c.3881G>A XP_016879919.1:p.Arg1294Lys