Canonical Allele Identifier: CA004651
Gene: TNNT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43648
ClinVar RCV Id: RCV000211867 RCV000459834 RCV000620577 RCV000624557
dbSNP Id: rs397516470
gnomAD v4: 1-201363376-TCTC-T
MyVariant Identifiers: chr1:g.201332505_201332507del (hg19) chr1:g.201363377_201363379del (hg38)
PubMed: PMID:7898523 PMID:10731693 PMID:11606294 PMID:12707239 PMID:12746413 PMID:14636924 PMID:16538283 PMID:22260945 PMID:22579624 PMID:24480310 PMID:27036851 PMID:27532257 PMID:27662471
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201363386_201363388del , CM000663.2:g.201363386_201363388del GRCh38
NC_000001.10:g.201332514_201332516del , CM000663.1:g.201332514_201332516del GRCh37
NC_000001.9:g.199599137_199599139del NCBI36
NG_007556.1:g.19299_19301del

Transcript Alleles

HGVS Amino-acid change
ENST00000455702.7:c.502_504del ENSP00000402238.3:p.Glu168del
ENST00000367318.10:c.487_489del ENSP00000356287.5:p.Glu163del
ENST00000367322.6:c.484_486del ENSP00000356291.2:p.Glu162del
ENST00000412633.3:c.487_489del ENSP00000408731.2:p.Glu163del
ENST00000422165.6:c.517_519del ENSP00000395163.2:p.Glu173del
ENST00000438742.6:c.469_471del ENSP00000414036.2:p.Glu157del
ENST00000455702.6:c.502_504del ENSP00000402238.2:p.Glu168del
ENST00000651504.1:n.981_983del
ENST00000656932.1:c.517_519del MANE Select ENSP00000499593.1:p.Glu173del
ENST00000658476.1:c.487_489del ENSP00000499741.1:p.Glu163del
ENST00000660295.1:c.487_489del ENSP00000499418.1:p.Glu163del
ENST00000662159.1:c.163-1380_163-1378del ENSP00000499796.1:n.163-1380_163-1378del
ENST00000663843.1:c.*417_*419del ENSP00000499590.1:n.*417_*419del
ENST00000666449.1:c.487_489del ENSP00000499667.1:p.Glu163del
ENST00000236918.11:c.517_519del ENSP00000236918.8:p.Glu173del
ENST00000360372.8:c.397_399del ENSP00000353535.5:p.Glu133del
ENST00000367315.6:c.493_495del ENSP00000356284.3:p.Glu165del
ENST00000367317.8:c.472_474del ENSP00000356286.5:p.Glu158del
ENST00000367318.9:c.487_489del ENSP00000356287.5:p.Glu163del
ENST00000367320.6:c.397_399del ENSP00000356289.2:p.Glu133del
ENST00000367322.5:c.487_489del ENSP00000356291.1:p.Glu163del
ENST00000421663.6:c.310_312del ENSP00000404134.3:p.Glu104del
ENST00000438742.5:c.472_474del ENSP00000414036.1:p.Glu158del
ENST00000455702.5:c.517_519del ENSP00000402238.1:p.Glu173del
ENST00000458432.6:c.310_312del ENSP00000387874.3:p.Glu104del
ENST00000460780.5:n.810_812del
ENST00000466570.5:n.743_745del
ENST00000491504.5:n.1726_1728del
ENST00000509001.5:c.487_489del ENSP00000422031.1:p.Glu163del
ENST00000515042.5:n.413_415del
NM_000364.3:c.517_519del NP_000355.2:p.Glu173del
NM_001001430.2:c.487_489del NP_001001430.1:p.Glu163del
NM_001001431.2:c.487_489del NP_001001431.1:p.Glu163del
NM_001001432.2:c.472_474del NP_001001432.1:p.Glu158del
NM_001276345.1:c.517_519del NP_001263274.1:p.Glu173del
NM_001276346.1:c.397_399del NP_001263275.1:p.Glu133del
NM_001276347.1:c.487_489del NP_001263276.1:p.Glu163del
XM_006711508.2:c.487_489del XP_006711571.1:p.Glu163del
XM_006711509.2:c.484_486del XP_006711572.1:p.Glu162del
XM_011509938.1:c.517_519del XP_011508240.1:p.Glu173del
XM_011509939.1:c.514_516del XP_011508241.1:p.Glu172del
XM_011509940.1:c.517_519del XP_011508242.1:p.Glu173del
XM_011509941.1:c.514_516del XP_011508243.1:p.Glu172del
XM_011509942.1:c.472_474del XP_011508244.1:p.Glu158del
XM_011509943.1:c.472_474del XP_011508245.1:p.Glu158del
XM_011509944.1:c.469_471del XP_011508246.1:p.Glu157del
XM_011509946.1:c.310_312del XP_011508248.1:p.Glu104del
XM_006711508.3:c.487_489del XP_006711571.1:p.Glu163del
XM_006711509.3:c.484_486del XP_006711572.1:p.Glu162del
XM_011509938.2:c.517_519del XP_011508240.1:p.Glu173del
XM_011509940.2:c.517_519del XP_011508242.1:p.Glu173del
XM_011509941.2:c.514_516del XP_011508243.1:p.Glu172del
XM_011509942.2:c.472_474del XP_011508244.1:p.Glu158del
XM_011509943.2:c.472_474del XP_011508245.1:p.Glu158del
XM_011509944.2:c.469_471del XP_011508246.1:p.Glu157del
XM_017002216.2:c.487_489del XP_016857705.1:p.Glu163del
XM_017002217.1:c.487_489del XP_016857706.1:p.Glu163del
XM_024449450.1:c.517_519del XP_024305218.1:p.Glu173del
XM_024449454.1:c.484_486del XP_024305222.1:p.Glu162del
XM_024449455.1:c.487_489del XP_024305223.1:p.Glu163del
NM_000364.4:c.517_519del NP_000355.2:p.Glu173del
NM_001001430.3:c.487_489del NP_001001430.1:p.Glu163del
NM_001001431.3:c.487_489del NP_001001431.1:p.Glu163del
NM_001001432.3:c.472_474del NP_001001432.1:p.Glu158del
NM_001276345.2:c.517_519del MANE Select NP_001263274.1:p.Glu173del
NM_001276346.2:c.397_399del NP_001263275.1:p.Glu133del
NM_001276347.2:c.487_489del NP_001263276.1:p.Glu163del
Search 100 bp 5'
Search 100 bp 3'