Canonical Allele Identifier: CA297460
Gene: TNNT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 181639
ClinVar RCV Id: RCV000159334
dbSNP Id: rs730881119

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201359631dup , CM000663.2:g.201359631dup GRCh38
NC_000001.10:g.201328759dup , CM000663.1:g.201328759dup GRCh37
NC_000001.9:g.199595382dup NCBI36
NG_007556.1:g.23048dup

Transcript Alleles

HGVS Amino-acid change
ENST00000455702.7:c.829dup ENSP00000402238.3:p.Gln277ProfsTer11
ENST00000367318.10:c.814dup ENSP00000356287.5:p.Gln272ProfsTer11
ENST00000367322.6:c.802dup ENSP00000356291.2:p.Gln268ProfsTer11
ENST00000412633.3:c.805dup ENSP00000408731.2:p.Gln269ProfsTer11
ENST00000422165.6:c.835dup ENSP00000395163.2:p.Gln279ProfsTer11
ENST00000438742.6:c.793dup ENSP00000414036.2:p.Gln265ProfsTer11
ENST00000651504.1:n.1305dup
ENST00000656932.1:c.844dup MANE Select ENSP00000499593.1:p.Gln282ProfsTer11
ENST00000658476.1:c.879dup ENSP00000499741.1:p.Arg294GlnfsTer18
ENST00000660295.1:c.814dup ENSP00000499418.1:p.Gln272ProfsTer11
ENST00000662159.1:c.*203dup ENSP00000499796.1:n.*203dup
ENST00000663843.1:c.*744dup ENSP00000499590.1:n.*744dup
ENST00000666449.1:c.*89dup ENSP00000499667.1:n.*89dup
ENST00000236918.11:c.844dup ENSP00000236918.8:p.Gln282ProfsTer11
ENST00000360372.8:c.715dup ENSP00000353535.5:p.Gln239ProfsTer11
ENST00000367315.6:c.823dup ENSP00000356284.3:p.Gln275ProfsTer11
ENST00000367317.8:c.796dup ENSP00000356286.5:p.Gln266ProfsTer11
ENST00000367318.9:c.814dup ENSP00000356287.5:p.Gln272ProfsTer11
ENST00000367320.6:c.715dup ENSP00000356289.2:p.Gln239ProfsTer11
ENST00000367322.5:c.805dup ENSP00000356291.1:p.Gln269ProfsTer11
ENST00000421663.6:c.628dup ENSP00000404134.3:p.Gln210ProfsTer11
ENST00000438742.5:c.796dup ENSP00000414036.1:p.Gln266ProfsTer?
ENST00000458432.6:c.628dup ENSP00000387874.3:p.Gln210ProfsTer11
ENST00000460780.5:n.1963dup
ENST00000476888.5:n.261dup
ENST00000491504.5:n.2053dup
ENST00000509001.5:c.814dup ENSP00000422031.1:p.Gln272ProfsTer11
NM_000364.3:c.835dup NP_000355.2:p.Gln279ProfsTer11
NM_001001430.2:c.814dup NP_001001430.1:p.Gln272ProfsTer11
NM_001001431.2:c.805dup NP_001001431.1:p.Gln269ProfsTer11
NM_001001432.2:c.796dup NP_001001432.1:p.Gln266ProfsTer11
NM_001276345.1:c.844dup NP_001263274.1:p.Gln282ProfsTer11
NM_001276346.1:c.715dup NP_001263275.1:p.Gln239ProfsTer11
NM_001276347.1:c.814dup NP_001263276.1:p.Gln272ProfsTer11
XM_006711508.2:c.814dup XP_006711571.1:p.Gln272ProfsTer11
XM_006711509.2:c.811dup XP_006711572.1:p.Gln271ProfsTer11
XM_011509938.1:c.844dup XP_011508240.1:p.Gln282ProfsTer11
XM_011509939.1:c.841dup XP_011508241.1:p.Gln281ProfsTer11
XM_011509940.1:c.841dup XP_011508242.1:p.Gln281ProfsTer11
XM_011509941.1:c.838dup XP_011508243.1:p.Gln280ProfsTer11
XM_011509942.1:c.799dup XP_011508244.1:p.Gln267ProfsTer11
XM_011509943.1:c.799dup XP_011508245.1:p.Gln267ProfsTer11
XM_011509944.1:c.796dup XP_011508246.1:p.Gln266ProfsTer11
XM_011509946.1:c.637dup XP_011508248.1:p.Gln213ProfsTer11
XM_006711508.3:c.814dup XP_006711571.1:p.Gln272ProfsTer11
XM_006711509.3:c.811dup XP_006711572.1:p.Gln271ProfsTer11
XM_011509938.2:c.844dup XP_011508240.1:p.Gln282ProfsTer11
XM_011509940.2:c.841dup XP_011508242.1:p.Gln281ProfsTer11
XM_011509941.2:c.838dup XP_011508243.1:p.Gln280ProfsTer11
XM_011509942.2:c.799dup XP_011508244.1:p.Gln267ProfsTer11
XM_011509943.2:c.799dup XP_011508245.1:p.Gln267ProfsTer11
XM_011509944.2:c.796dup XP_011508246.1:p.Gln266ProfsTer11
XM_017002216.2:c.811dup XP_016857705.1:p.Gln271ProfsTer11
XM_017002217.1:c.805dup XP_016857706.1:p.Gln269ProfsTer11
XM_024449450.1:c.844dup XP_024305218.1:p.Gln282ProfsTer11
XM_024449454.1:c.811dup XP_024305222.1:p.Gln271ProfsTer11
XM_024449455.1:c.811dup XP_024305223.1:p.Gln271ProfsTer11
NM_000364.4:c.835dup NP_000355.2:p.Gln279ProfsTer11
NM_001001430.3:c.814dup NP_001001430.1:p.Gln272ProfsTer11
NM_001001431.3:c.805dup NP_001001431.1:p.Gln269ProfsTer11
NM_001001432.3:c.796dup NP_001001432.1:p.Gln266ProfsTer11
NM_001276345.2:c.844dup MANE Select NP_001263274.1:p.Gln282ProfsTer11
NM_001276346.2:c.715dup NP_001263275.1:p.Gln239ProfsTer11
NM_001276347.2:c.814dup NP_001263276.1:p.Gln272ProfsTer11