Canonical Allele Identifier: CA344201835
Gene: TNNT2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201359221G>T , CM000663.2:g.201359221G>T GRCh38
NC_000001.10:g.201328349G>T , CM000663.1:g.201328349G>T GRCh37
NC_000001.9:g.199594972G>T NCBI36
NG_007556.1:g.23457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455702.7:c.871C>A ENSP00000402238.3:p.Arg291Ser
ENST00000367318.10:c.856C>A ENSP00000356287.5:p.Arg286Ser
ENST00000367322.6:c.844C>A ENSP00000356291.2:p.Arg282Ser
ENST00000412633.3:c.847C>A ENSP00000408731.2:p.Arg283Ser
ENST00000422165.6:c.877C>A ENSP00000395163.2:p.Arg293Ser
ENST00000438742.6:c.835C>A ENSP00000414036.2:p.Arg279Ser
ENST00000651504.1:n.1347C>A
ENST00000656932.1:c.886C>A MANE Select ENSP00000499593.1:p.Arg296Ser
ENST00000658476.1:c.921C>A ENSP00000499741.1:p.Gly307=
ENST00000660295.1:c.856C>A ENSP00000499418.1:p.Arg286Ser
ENST00000662159.1:c.*245C>A ENSP00000499796.1:n.*245C>A
ENST00000663843.1:c.*786C>A ENSP00000499590.1:n.*786C>A
ENST00000666449.1:c.*131C>A ENSP00000499667.1:n.*131C>A
ENST00000236918.11:c.886C>A ENSP00000236918.8:p.Arg296Ser
ENST00000360372.8:c.757C>A ENSP00000353535.5:p.Arg253Ser
ENST00000367315.6:c.865C>A ENSP00000356284.3:p.Arg289Ser
ENST00000367317.8:c.838C>A ENSP00000356286.5:p.Arg280Ser
ENST00000367318.9:c.856C>A ENSP00000356287.5:p.Arg286Ser
ENST00000367320.6:c.757C>A ENSP00000356289.2:p.Arg253Ser
ENST00000367322.5:c.847C>A ENSP00000356291.1:p.Arg283Ser
ENST00000421663.6:c.670C>A ENSP00000404134.3:p.Arg224Ser
ENST00000458432.6:c.670C>A ENSP00000387874.3:p.Arg224Ser
ENST00000460780.5:n.2005C>A
ENST00000476888.5:n.303C>A
ENST00000491504.5:n.2095C>A
ENST00000509001.5:c.856C>A ENSP00000422031.1:p.Arg286Ser
NM_000364.3:c.877C>A NP_000355.2:p.Arg293Ser
NM_001001430.2:c.856C>A NP_001001430.1:p.Arg286Ser
NM_001001431.2:c.847C>A NP_001001431.1:p.Arg283Ser
NM_001001432.2:c.838C>A NP_001001432.1:p.Arg280Ser
NM_001276345.1:c.886C>A NP_001263274.1:p.Arg296Ser
NM_001276346.1:c.757C>A NP_001263275.1:p.Arg253Ser
NM_001276347.1:c.856C>A NP_001263276.1:p.Arg286Ser
XM_006711508.2:c.856C>A XP_006711571.1:p.Arg286Ser
XM_006711509.2:c.853C>A XP_006711572.1:p.Arg285Ser
XM_011509938.1:c.886C>A XP_011508240.1:p.Arg296Ser
XM_011509939.1:c.883C>A XP_011508241.1:p.Arg295Ser
XM_011509940.1:c.883C>A XP_011508242.1:p.Arg295Ser
XM_011509941.1:c.880C>A XP_011508243.1:p.Arg294Ser
XM_011509942.1:c.841C>A XP_011508244.1:p.Arg281Ser
XM_011509943.1:c.841C>A XP_011508245.1:p.Arg281Ser
XM_011509944.1:c.838C>A XP_011508246.1:p.Arg280Ser
XM_011509946.1:c.679C>A XP_011508248.1:p.Arg227Ser
XM_006711508.3:c.856C>A XP_006711571.1:p.Arg286Ser
XM_006711509.3:c.853C>A XP_006711572.1:p.Arg285Ser
XM_011509938.2:c.886C>A XP_011508240.1:p.Arg296Ser
XM_011509940.2:c.883C>A XP_011508242.1:p.Arg295Ser
XM_011509941.2:c.880C>A XP_011508243.1:p.Arg294Ser
XM_011509942.2:c.841C>A XP_011508244.1:p.Arg281Ser
XM_011509943.2:c.841C>A XP_011508245.1:p.Arg281Ser
XM_011509944.2:c.838C>A XP_011508246.1:p.Arg280Ser
XM_017002216.2:c.853C>A XP_016857705.1:p.Arg285Ser
XM_017002217.1:c.847C>A XP_016857706.1:p.Arg283Ser
XM_024449450.1:c.886C>A XP_024305218.1:p.Arg296Ser
XM_024449454.1:c.853C>A XP_024305222.1:p.Arg285Ser
XM_024449455.1:c.853C>A XP_024305223.1:p.Arg285Ser
NM_000364.4:c.877C>A NP_000355.2:p.Arg293Ser
NM_001001430.3:c.856C>A NP_001001430.1:p.Arg286Ser
NM_001001431.3:c.847C>A NP_001001431.1:p.Arg283Ser
NM_001001432.3:c.838C>A NP_001001432.1:p.Arg280Ser
NM_001276345.2:c.886C>A MANE Select NP_001263274.1:p.Arg296Ser
NM_001276346.2:c.757C>A NP_001263275.1:p.Arg253Ser
NM_001276347.2:c.856C>A NP_001263276.1:p.Arg286Ser