Canonical Allele Identifier: CA004216

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 43623
• ClinVar RCV Id: RCV000036568 ; RCV000244818 ; RCV001293092 ; RCV000159277 ; RCV001798103 ; RCV001366540
• dbSNP Id: rs397516452
• MyVariant Identifiers: chr1:g.201334751C>G (hg19) ; chr1:g.201365623C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201365623C>G , CM000663.2:g.201365623C>G	GRCh38
NC_000001.10:g.201334751C>G , CM000663.1:g.201334751C>G	GRCh37
NC_000001.9:g.199601374C>G	NCBI36
NG_007556.1:g.17055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455702.7:c.266G>C	ENSP00000402238.3:p.Arg89Thr
ENST00000367318.10:c.251G>C	ENSP00000356287.5:p.Arg84Thr
ENST00000367322.6:c.248G>C	ENSP00000356291.2:p.Arg83Thr
ENST00000412633.3:c.251G>C	ENSP00000408731.2:p.Arg84Thr
ENST00000422165.6:c.281G>C	ENSP00000395163.2:p.Arg94Thr
ENST00000438742.6:c.233G>C	ENSP00000414036.2:p.Arg78Thr
ENST00000455702.6:c.266G>C	ENSP00000402238.2:p.Arg89Thr
ENST00000651504.1:n.745G>C
ENST00000656932.1:c.281G>C MANE Select	ENSP00000499593.1:p.Arg94Thr
ENST00000658476.1:c.251G>C	ENSP00000499741.1:p.Arg84Thr
ENST00000660295.1:c.251G>C	ENSP00000499418.1:p.Arg84Thr
ENST00000662159.1:c.162+2155G>C	ENSP00000499796.1:n.162+2155G>C
ENST00000663843.1:c.*181G>C	ENSP00000499590.1:n.*181G>C
ENST00000666449.1:c.251G>C	ENSP00000499667.1:p.Arg84Thr
ENST00000236918.11:c.281G>C	ENSP00000236918.8:p.Arg94Thr
ENST00000360372.8:c.278G>C	ENSP00000353535.5:p.Arg93Thr
ENST00000367315.6:c.257G>C	ENSP00000356284.3:p.Arg86Thr
ENST00000367317.8:c.236G>C	ENSP00000356286.5:p.Arg79Thr
ENST00000367318.9:c.251G>C	ENSP00000356287.5:p.Arg84Thr
ENST00000367320.6:c.278G>C	ENSP00000356289.2:p.Arg93Thr
ENST00000367322.5:c.251G>C	ENSP00000356291.1:p.Arg84Thr
ENST00000412633.2:c.248G>C	ENSP00000408731.1:p.Arg83Thr
ENST00000421663.6:c.74G>C	ENSP00000404134.3:p.Arg25Thr
ENST00000422165.5:c.266G>C	ENSP00000395163.1:p.Arg89Thr
ENST00000438742.5:c.236G>C	ENSP00000414036.1:p.Arg79Thr
ENST00000455702.5:c.281G>C	ENSP00000402238.1:p.Arg94Thr
ENST00000458432.6:c.74G>C	ENSP00000387874.3:p.Arg25Thr
ENST00000466570.5:n.507G>C
ENST00000491504.5:n.1490G>C
ENST00000503459.1:n.120G>C
ENST00000509001.5:c.251G>C	ENSP00000422031.1:p.Arg84Thr
ENST00000515042.5:n.177G>C
NM_000364.3:c.281G>C	NP_000355.2:p.Arg94Thr
NM_001001430.2:c.251G>C	NP_001001430.1:p.Arg84Thr
NM_001001431.2:c.251G>C	NP_001001431.1:p.Arg84Thr
NM_001001432.2:c.236G>C	NP_001001432.1:p.Arg79Thr
NM_001276345.1:c.281G>C	NP_001263274.1:p.Arg94Thr
NM_001276346.1:c.278G>C	NP_001263275.1:p.Arg93Thr
NM_001276347.1:c.251G>C	NP_001263276.1:p.Arg84Thr
XM_006711508.2:c.251G>C	XP_006711571.1:p.Arg84Thr
XM_006711509.2:c.248G>C	XP_006711572.1:p.Arg83Thr
XM_011509938.1:c.281G>C	XP_011508240.1:p.Arg94Thr
XM_011509939.1:c.278G>C	XP_011508241.1:p.Arg93Thr
XM_011509940.1:c.281G>C	XP_011508242.1:p.Arg94Thr
XM_011509941.1:c.278G>C	XP_011508243.1:p.Arg93Thr
XM_011509942.1:c.236G>C	XP_011508244.1:p.Arg79Thr
XM_011509943.1:c.236G>C	XP_011508245.1:p.Arg79Thr
XM_011509944.1:c.233G>C	XP_011508246.1:p.Arg78Thr
XM_011509945.1:c.281G>C	XP_011508247.1:p.Arg94Thr
XM_011509946.1:c.74G>C	XP_011508248.1:p.Arg25Thr
XM_006711508.3:c.251G>C	XP_006711571.1:p.Arg84Thr
XM_006711509.3:c.248G>C	XP_006711572.1:p.Arg83Thr
XM_011509938.2:c.281G>C	XP_011508240.1:p.Arg94Thr
XM_011509940.2:c.281G>C	XP_011508242.1:p.Arg94Thr
XM_011509941.2:c.278G>C	XP_011508243.1:p.Arg93Thr
XM_011509942.2:c.236G>C	XP_011508244.1:p.Arg79Thr
XM_011509943.2:c.236G>C	XP_011508245.1:p.Arg79Thr
XM_011509944.2:c.233G>C	XP_011508246.1:p.Arg78Thr
XM_017002216.2:c.251G>C	XP_016857705.1:p.Arg84Thr
XM_017002217.1:c.251G>C	XP_016857706.1:p.Arg84Thr
XM_024449450.1:c.281G>C	XP_024305218.1:p.Arg94Thr
XM_024449454.1:c.248G>C	XP_024305222.1:p.Arg83Thr
XM_024449455.1:c.251G>C	XP_024305223.1:p.Arg84Thr
NM_000364.4:c.281G>C	NP_000355.2:p.Arg94Thr
NM_001001430.3:c.251G>C	NP_001001430.1:p.Arg84Thr
NM_001001431.3:c.251G>C	NP_001001431.1:p.Arg84Thr
NM_001001432.3:c.236G>C	NP_001001432.1:p.Arg79Thr
NM_001276345.2:c.281G>C MANE Select	NP_001263274.1:p.Arg94Thr
NM_001276346.2:c.278G>C	NP_001263275.1:p.Arg93Thr
NM_001276347.2:c.251G>C	NP_001263276.1:p.Arg84Thr