Canonical Allele Identifier: CA8698249
Community Standard Title: NM_001394998.1(TANC2):c.4471G>A (p.Val1491Ile)
Gene: TANC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63420201G>A , CM000679.2:g.63420201G>A GRCh38
NC_000017.10:g.61497562G>A , CM000679.1:g.61497562G>A GRCh37
NC_000017.9:g.58851294G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394998.1:c.4471G>A MANE Select NP_001381927.1:p.Val1491Ile
ENST00000689528.1:c.4471G>A MANE Select ENSP00000510600.1:p.Val1491Ile
NM_025185.3:c.4219G>A NP_079461.2:p.Val1407Ile
NM_025185.4:c.4219G>A NP_079461.2:p.Val1407Ile
ENST00000389520.8:c.4249G>A ENSP00000374171.4:p.Val1417Ile
ENST00000424789.6:c.4219G>A ENSP00000387593.2:p.Val1407Ile
ENST00000583356.5:c.3904G>A
ENST00000613171.4:c.1549G>A ENSP00000478576.1:p.Val517Ile
XM_005257203.3:c.4219G>A XP_005257260.1:p.Val1407Ile
XM_005257203.4:c.4219G>A XP_005257260.1:p.Val1407Ile
XM_006721806.2:c.4471G>A XP_006721869.1:p.Val1491Ile
XM_006721806.3:c.4471G>A XP_006721869.1:p.Val1491Ile
XM_006721807.2:c.4441G>A XP_006721870.1:p.Val1481Ile
XM_006721807.3:c.4441G>A XP_006721870.1:p.Val1481Ile
XM_006721811.2:c.*140G>A XP_006721874.1:n.*140G>A
XM_006721811.4:c.*140G>A XP_006721874.1:n.*140G>A
XM_011524597.1:c.4474G>A XP_011522899.1:p.Val1492Ile
XM_011524597.2:c.4474G>A XP_011522899.1:p.Val1492Ile
XM_011524598.1:c.4444G>A XP_011522900.1:p.Val1482Ile
XM_011524598.2:c.4444G>A XP_011522900.1:p.Val1482Ile
XM_011524599.1:c.4426G>A XP_011522901.1:p.Val1476Ile
XM_011524600.1:c.4363G>A XP_011522902.1:p.Val1455Ile
XM_011524600.2:c.4363G>A XP_011522902.1:p.Val1455Ile
XM_011524601.1:c.4363G>A XP_011522903.1:p.Val1455Ile
XM_011524601.2:c.4363G>A XP_011522903.1:p.Val1455Ile
XM_011524602.1:c.4252G>A XP_011522904.1:p.Val1418Ile
XM_011524602.2:c.4252G>A XP_011522904.1:p.Val1418Ile
XM_011524603.1:c.3982G>A XP_011522905.1:p.Val1328Ile
XM_011524604.1:c.1324G>A XP_011522906.1:p.Val442Ile
XM_017024429.1:c.4393G>A XP_016879918.1:p.Val1465Ile
XM_017024430.2:c.3982G>A XP_016879919.1:p.Val1328Ile