Canonical Allele Identifier: CA344204546

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 1284760
• ClinVar RCV Id: RCV001700565
• dbSNP Id: rs1558225569
• gnomAD v4: 1-201363379-C-G
• MyVariant Identifiers: chr1:g.201332507C>G (hg19) ; chr1:g.201363379C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201363379C>G , CM000663.2:g.201363379C>G	GRCh38
NC_000001.10:g.201332507C>G , CM000663.1:g.201332507C>G	GRCh37
NC_000001.9:g.199599130C>G	NCBI36
NG_007556.1:g.19299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455702.7:c.502G>C	ENSP00000402238.3:p.Glu168Gln
ENST00000367318.10:c.487G>C	ENSP00000356287.5:p.Glu163Gln
ENST00000367322.6:c.484G>C	ENSP00000356291.2:p.Glu162Gln
ENST00000412633.3:c.487G>C	ENSP00000408731.2:p.Glu163Gln
ENST00000422165.6:c.517G>C	ENSP00000395163.2:p.Glu173Gln
ENST00000438742.6:c.469G>C	ENSP00000414036.2:p.Glu157Gln
ENST00000455702.6:c.502G>C	ENSP00000402238.2:p.Glu168Gln
ENST00000651504.1:n.981G>C
ENST00000656932.1:c.517G>C MANE Select	ENSP00000499593.1:p.Glu173Gln
ENST00000658476.1:c.487G>C	ENSP00000499741.1:p.Glu163Gln
ENST00000660295.1:c.487G>C	ENSP00000499418.1:p.Glu163Gln
ENST00000662159.1:c.163-1380G>C	ENSP00000499796.1:n.163-1380G>C
ENST00000663843.1:c.*417G>C	ENSP00000499590.1:n.*417G>C
ENST00000666449.1:c.487G>C	ENSP00000499667.1:p.Glu163Gln
ENST00000236918.11:c.517G>C	ENSP00000236918.8:p.Glu173Gln
ENST00000360372.8:c.397G>C	ENSP00000353535.5:p.Glu133Gln
ENST00000367315.6:c.493G>C	ENSP00000356284.3:p.Glu165Gln
ENST00000367317.8:c.472G>C	ENSP00000356286.5:p.Glu158Gln
ENST00000367318.9:c.487G>C	ENSP00000356287.5:p.Glu163Gln
ENST00000367320.6:c.397G>C	ENSP00000356289.2:p.Glu133Gln
ENST00000367322.5:c.487G>C	ENSP00000356291.1:p.Glu163Gln
ENST00000421663.6:c.310G>C	ENSP00000404134.3:p.Glu104Gln
ENST00000438742.5:c.472G>C	ENSP00000414036.1:p.Glu158Gln
ENST00000455702.5:c.517G>C	ENSP00000402238.1:p.Glu173Gln
ENST00000458432.6:c.310G>C	ENSP00000387874.3:p.Glu104Gln
ENST00000460780.5:n.810G>C
ENST00000466570.5:n.743G>C
ENST00000491504.5:n.1726G>C
ENST00000509001.5:c.487G>C	ENSP00000422031.1:p.Glu163Gln
ENST00000515042.5:n.413G>C
NM_000364.3:c.517G>C	NP_000355.2:p.Glu173Gln
NM_001001430.2:c.487G>C	NP_001001430.1:p.Glu163Gln
NM_001001431.2:c.487G>C	NP_001001431.1:p.Glu163Gln
NM_001001432.2:c.472G>C	NP_001001432.1:p.Glu158Gln
NM_001276345.1:c.517G>C	NP_001263274.1:p.Glu173Gln
NM_001276346.1:c.397G>C	NP_001263275.1:p.Glu133Gln
NM_001276347.1:c.487G>C	NP_001263276.1:p.Glu163Gln
XM_006711508.2:c.487G>C	XP_006711571.1:p.Glu163Gln
XM_006711509.2:c.484G>C	XP_006711572.1:p.Glu162Gln
XM_011509938.1:c.517G>C	XP_011508240.1:p.Glu173Gln
XM_011509939.1:c.514G>C	XP_011508241.1:p.Glu172Gln
XM_011509940.1:c.517G>C	XP_011508242.1:p.Glu173Gln
XM_011509941.1:c.514G>C	XP_011508243.1:p.Glu172Gln
XM_011509942.1:c.472G>C	XP_011508244.1:p.Glu158Gln
XM_011509943.1:c.472G>C	XP_011508245.1:p.Glu158Gln
XM_011509944.1:c.469G>C	XP_011508246.1:p.Glu157Gln
XM_011509946.1:c.310G>C	XP_011508248.1:p.Glu104Gln
XM_006711508.3:c.487G>C	XP_006711571.1:p.Glu163Gln
XM_006711509.3:c.484G>C	XP_006711572.1:p.Glu162Gln
XM_011509938.2:c.517G>C	XP_011508240.1:p.Glu173Gln
XM_011509940.2:c.517G>C	XP_011508242.1:p.Glu173Gln
XM_011509941.2:c.514G>C	XP_011508243.1:p.Glu172Gln
XM_011509942.2:c.472G>C	XP_011508244.1:p.Glu158Gln
XM_011509943.2:c.472G>C	XP_011508245.1:p.Glu158Gln
XM_011509944.2:c.469G>C	XP_011508246.1:p.Glu157Gln
XM_017002216.2:c.487G>C	XP_016857705.1:p.Glu163Gln
XM_017002217.1:c.487G>C	XP_016857706.1:p.Glu163Gln
XM_024449450.1:c.517G>C	XP_024305218.1:p.Glu173Gln
XM_024449454.1:c.484G>C	XP_024305222.1:p.Glu162Gln
XM_024449455.1:c.487G>C	XP_024305223.1:p.Glu163Gln
NM_000364.4:c.517G>C	NP_000355.2:p.Glu173Gln
NM_001001430.3:c.487G>C	NP_001001430.1:p.Glu163Gln
NM_001001431.3:c.487G>C	NP_001001431.1:p.Glu163Gln
NM_001001432.3:c.472G>C	NP_001001432.1:p.Glu158Gln
NM_001276345.2:c.517G>C MANE Select	NP_001263274.1:p.Glu173Gln
NM_001276346.2:c.397G>C	NP_001263275.1:p.Glu133Gln
NM_001276347.2:c.487G>C	NP_001263276.1:p.Glu163Gln