Canonical Allele Identifier: CA005066
Gene: TNNT2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201361314C>T , CM000663.2:g.201361314C>T GRCh38
NC_000001.10:g.201330442C>T , CM000663.1:g.201330442C>T GRCh37
NC_000001.9:g.199597065C>T NCBI36
NG_007556.1:g.21364G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455702.7:c.760G>A ENSP00000402238.3:p.Asp254Asn
ENST00000367318.10:c.745G>A ENSP00000356287.5:p.Asp249Asn
ENST00000367322.6:c.733G>A ENSP00000356291.2:p.Asp245Asn
ENST00000412633.3:c.736G>A ENSP00000408731.2:p.Asp246Asn
ENST00000422165.6:c.766G>A ENSP00000395163.2:p.Asp256Asn
ENST00000438742.6:c.724G>A ENSP00000414036.2:p.Asp242Asn
ENST00000455702.6:c.760G>A ENSP00000402238.2:p.Asp254Asn
ENST00000651504.1:n.1236G>A
ENST00000656932.1:c.775G>A MANE Select ENSP00000499593.1:p.Asp259Asn
ENST00000658476.1:c.745G>A ENSP00000499741.1:p.Asp249Asn
ENST00000660295.1:c.745G>A ENSP00000499418.1:p.Asp249Asn
ENST00000662159.1:c.*134G>A ENSP00000499796.1:n.*134G>A
ENST00000663843.1:c.*675G>A ENSP00000499590.1:n.*675G>A
ENST00000666449.1:c.*20G>A ENSP00000499667.1:n.*20G>A
ENST00000236918.11:c.775G>A ENSP00000236918.8:p.Asp259Asn
ENST00000360372.8:c.646G>A ENSP00000353535.5:p.Asp216Asn
ENST00000367315.6:c.754G>A ENSP00000356284.3:p.Asp252Asn
ENST00000367317.8:c.727G>A ENSP00000356286.5:p.Asp243Asn
ENST00000367318.9:c.745G>A ENSP00000356287.5:p.Asp249Asn
ENST00000367320.6:c.646G>A ENSP00000356289.2:p.Asp216Asn
ENST00000367322.5:c.736G>A ENSP00000356291.1:p.Asp246Asn
ENST00000421663.6:c.559G>A ENSP00000404134.3:p.Asp187Asn
ENST00000438742.5:c.727G>A ENSP00000414036.1:p.Asp243Asn
ENST00000458432.6:c.559G>A ENSP00000387874.3:p.Asp187Asn
ENST00000460780.5:n.1068G>A
ENST00000476888.5:n.192G>A
ENST00000477035.1:n.44G>A
ENST00000491504.5:n.1984G>A
ENST00000509001.5:c.745G>A ENSP00000422031.1:p.Asp249Asn
ENST00000515042.5:n.671G>A
NM_000364.3:c.766G>A NP_000355.2:p.Asp256Asn
NM_001001430.2:c.745G>A NP_001001430.1:p.Asp249Asn
NM_001001431.2:c.736G>A NP_001001431.1:p.Asp246Asn
NM_001001432.2:c.727G>A NP_001001432.1:p.Asp243Asn
NM_001276345.1:c.775G>A NP_001263274.1:p.Asp259Asn
NM_001276346.1:c.646G>A NP_001263275.1:p.Asp216Asn
NM_001276347.1:c.745G>A NP_001263276.1:p.Asp249Asn
XM_006711508.2:c.745G>A XP_006711571.1:p.Asp249Asn
XM_006711509.2:c.742G>A XP_006711572.1:p.Asp248Asn
XM_011509938.1:c.775G>A XP_011508240.1:p.Asp259Asn
XM_011509939.1:c.772G>A XP_011508241.1:p.Asp258Asn
XM_011509940.1:c.772G>A XP_011508242.1:p.Asp258Asn
XM_011509941.1:c.769G>A XP_011508243.1:p.Asp257Asn
XM_011509942.1:c.730G>A XP_011508244.1:p.Asp244Asn
XM_011509943.1:c.730G>A XP_011508245.1:p.Asp244Asn
XM_011509944.1:c.727G>A XP_011508246.1:p.Asp243Asn
XM_011509946.1:c.568G>A XP_011508248.1:p.Asp190Asn
XM_006711508.3:c.745G>A XP_006711571.1:p.Asp249Asn
XM_006711509.3:c.742G>A XP_006711572.1:p.Asp248Asn
XM_011509938.2:c.775G>A XP_011508240.1:p.Asp259Asn
XM_011509940.2:c.772G>A XP_011508242.1:p.Asp258Asn
XM_011509941.2:c.769G>A XP_011508243.1:p.Asp257Asn
XM_011509942.2:c.730G>A XP_011508244.1:p.Asp244Asn
XM_011509943.2:c.730G>A XP_011508245.1:p.Asp244Asn
XM_011509944.2:c.727G>A XP_011508246.1:p.Asp243Asn
XM_017002216.2:c.742G>A XP_016857705.1:p.Asp248Asn
XM_017002217.1:c.736G>A XP_016857706.1:p.Asp246Asn
XM_024449450.1:c.775G>A XP_024305218.1:p.Asp259Asn
XM_024449454.1:c.742G>A XP_024305222.1:p.Asp248Asn
XM_024449455.1:c.742G>A XP_024305223.1:p.Asp248Asn
NM_000364.4:c.766G>A NP_000355.2:p.Asp256Asn
NM_001001430.3:c.745G>A NP_001001430.1:p.Asp249Asn
NM_001001431.3:c.736G>A NP_001001431.1:p.Asp246Asn
NM_001001432.3:c.727G>A NP_001001432.1:p.Asp243Asn
NM_001276345.2:c.775G>A MANE Select NP_001263274.1:p.Asp259Asn
NM_001276346.2:c.646G>A NP_001263275.1:p.Asp216Asn
NM_001276347.2:c.745G>A NP_001263276.1:p.Asp249Asn