Canonical Allele Identifier: CA004222

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 43624
• ClinVar RCV Id: RCV000036569 ; RCV001171168 ; RCV003450677 ; RCV003450676 ; RCV003450675
• dbSNP Id: rs397516453
• MyVariant Identifiers: chr1:g.201334750T>A (hg19) ; chr1:g.201365622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201365622T>A , CM000663.2:g.201365622T>A	GRCh38
NC_000001.10:g.201334750T>A , CM000663.1:g.201334750T>A	GRCh37
NC_000001.9:g.199601373T>A	NCBI36
NG_007556.1:g.17056A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455702.7:c.267A>T	ENSP00000402238.3:p.Arg89Ser
ENST00000367318.10:c.252A>T	ENSP00000356287.5:p.Arg84Ser
ENST00000367322.6:c.249A>T	ENSP00000356291.2:p.Arg83Ser
ENST00000412633.3:c.252A>T	ENSP00000408731.2:p.Arg84Ser
ENST00000422165.6:c.282A>T	ENSP00000395163.2:p.Arg94Ser
ENST00000438742.6:c.234A>T	ENSP00000414036.2:p.Arg78Ser
ENST00000455702.6:c.267A>T	ENSP00000402238.2:p.Arg89Ser
ENST00000651504.1:n.746A>T
ENST00000656932.1:c.282A>T MANE Select	ENSP00000499593.1:p.Arg94Ser
ENST00000658476.1:c.252A>T	ENSP00000499741.1:p.Arg84Ser
ENST00000660295.1:c.252A>T	ENSP00000499418.1:p.Arg84Ser
ENST00000662159.1:c.162+2156A>T	ENSP00000499796.1:n.162+2156A>T
ENST00000663843.1:c.*182A>T	ENSP00000499590.1:n.*182A>T
ENST00000666449.1:c.252A>T	ENSP00000499667.1:p.Arg84Ser
ENST00000236918.11:c.282A>T	ENSP00000236918.8:p.Arg94Ser
ENST00000360372.8:c.279A>T	ENSP00000353535.5:p.Arg93Ser
ENST00000367315.6:c.258A>T	ENSP00000356284.3:p.Arg86Ser
ENST00000367317.8:c.237A>T	ENSP00000356286.5:p.Arg79Ser
ENST00000367318.9:c.252A>T	ENSP00000356287.5:p.Arg84Ser
ENST00000367320.6:c.279A>T	ENSP00000356289.2:p.Arg93Ser
ENST00000367322.5:c.252A>T	ENSP00000356291.1:p.Arg84Ser
ENST00000412633.2:c.249A>T	ENSP00000408731.1:p.Arg83Ser
ENST00000421663.6:c.75A>T	ENSP00000404134.3:p.Arg25Ser
ENST00000422165.5:c.267A>T	ENSP00000395163.1:p.Arg89Ser
ENST00000438742.5:c.237A>T	ENSP00000414036.1:p.Arg79Ser
ENST00000455702.5:c.282A>T	ENSP00000402238.1:p.Arg94Ser
ENST00000458432.6:c.75A>T	ENSP00000387874.3:p.Arg25Ser
ENST00000466570.5:n.508A>T
ENST00000491504.5:n.1491A>T
ENST00000503459.1:n.121A>T
ENST00000509001.5:c.252A>T	ENSP00000422031.1:p.Arg84Ser
ENST00000515042.5:n.178A>T
NM_000364.3:c.282A>T	NP_000355.2:p.Arg94Ser
NM_001001430.2:c.252A>T	NP_001001430.1:p.Arg84Ser
NM_001001431.2:c.252A>T	NP_001001431.1:p.Arg84Ser
NM_001001432.2:c.237A>T	NP_001001432.1:p.Arg79Ser
NM_001276345.1:c.282A>T	NP_001263274.1:p.Arg94Ser
NM_001276346.1:c.279A>T	NP_001263275.1:p.Arg93Ser
NM_001276347.1:c.252A>T	NP_001263276.1:p.Arg84Ser
XM_006711508.2:c.252A>T	XP_006711571.1:p.Arg84Ser
XM_006711509.2:c.249A>T	XP_006711572.1:p.Arg83Ser
XM_011509938.1:c.282A>T	XP_011508240.1:p.Arg94Ser
XM_011509939.1:c.279A>T	XP_011508241.1:p.Arg93Ser
XM_011509940.1:c.282A>T	XP_011508242.1:p.Arg94Ser
XM_011509941.1:c.279A>T	XP_011508243.1:p.Arg93Ser
XM_011509942.1:c.237A>T	XP_011508244.1:p.Arg79Ser
XM_011509943.1:c.237A>T	XP_011508245.1:p.Arg79Ser
XM_011509944.1:c.234A>T	XP_011508246.1:p.Arg78Ser
XM_011509945.1:c.282A>T	XP_011508247.1:p.Arg94Ser
XM_011509946.1:c.75A>T	XP_011508248.1:p.Arg25Ser
XM_006711508.3:c.252A>T	XP_006711571.1:p.Arg84Ser
XM_006711509.3:c.249A>T	XP_006711572.1:p.Arg83Ser
XM_011509938.2:c.282A>T	XP_011508240.1:p.Arg94Ser
XM_011509940.2:c.282A>T	XP_011508242.1:p.Arg94Ser
XM_011509941.2:c.279A>T	XP_011508243.1:p.Arg93Ser
XM_011509942.2:c.237A>T	XP_011508244.1:p.Arg79Ser
XM_011509943.2:c.237A>T	XP_011508245.1:p.Arg79Ser
XM_011509944.2:c.234A>T	XP_011508246.1:p.Arg78Ser
XM_017002216.2:c.252A>T	XP_016857705.1:p.Arg84Ser
XM_017002217.1:c.252A>T	XP_016857706.1:p.Arg84Ser
XM_024449450.1:c.282A>T	XP_024305218.1:p.Arg94Ser
XM_024449454.1:c.249A>T	XP_024305222.1:p.Arg83Ser
XM_024449455.1:c.252A>T	XP_024305223.1:p.Arg84Ser
NM_000364.4:c.282A>T	NP_000355.2:p.Arg94Ser
NM_001001430.3:c.252A>T	NP_001001430.1:p.Arg84Ser
NM_001001431.3:c.252A>T	NP_001001431.1:p.Arg84Ser
NM_001001432.3:c.237A>T	NP_001001432.1:p.Arg79Ser
NM_001276345.2:c.282A>T MANE Select	NP_001263274.1:p.Arg94Ser
NM_001276346.2:c.279A>T	NP_001263275.1:p.Arg93Ser
NM_001276347.2:c.252A>T	NP_001263276.1:p.Arg84Ser