Canonical Allele Identifier: CA004435

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 181616
• ClinVar RCV Id: RCV000159289 ; RCV003416023 ; RCV003453221 ; RCV003453222 ; RCV003453223
• dbSNP Id: rs730881100
• gnomAD v2: 1-201333503-C-T
• gnomAD v3: 1-201364375-C-T
• gnomAD v4: 1-201364375-C-T
• MyVariant Identifiers: chr1:g.201333503C>T (hg19) ; chr1:g.201364375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201364375C>T , CM000663.2:g.201364375C>T	GRCh38
NC_000001.10:g.201333503C>T , CM000663.1:g.201333503C>T	GRCh37
NC_000001.9:g.199600126C>T	NCBI36
NG_007556.1:g.18303G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.397G>A	ENSP00000402238.3:p.Glu133Lys
ENST00000367318.10:c.382G>A	ENSP00000356287.5:p.Glu128Lys
ENST00000367322.6:c.379G>A	ENSP00000356291.2:p.Glu127Lys
ENST00000412633.3:c.382G>A	ENSP00000408731.2:p.Glu128Lys
ENST00000422165.6:c.412G>A	ENSP00000395163.2:p.Glu138Lys
ENST00000438742.6:c.364G>A	ENSP00000414036.2:p.Glu122Lys
ENST00000455702.6:c.397G>A	ENSP00000402238.2:p.Glu133Lys
ENST00000651504.1:n.876G>A
ENST00000656932.1:c.412G>A MANE Select	ENSP00000499593.1:p.Glu138Lys
ENST00000658476.1:c.382G>A	ENSP00000499741.1:p.Glu128Lys
ENST00000660295.1:c.382G>A	ENSP00000499418.1:p.Glu128Lys
ENST00000662159.1:c.163-2376G>A	ENSP00000499796.1:n.163-2376G>A
ENST00000663843.1:c.*312G>A	ENSP00000499590.1:n.*312G>A
ENST00000666449.1:c.382G>A	ENSP00000499667.1:p.Glu128Lys
ENST00000236918.11:c.412G>A	ENSP00000236918.8:p.Glu138Lys
ENST00000360372.8:c.292G>A	ENSP00000353535.5:p.Glu98Lys
ENST00000367315.6:c.388G>A	ENSP00000356284.3:p.Glu130Lys
ENST00000367317.8:c.367G>A	ENSP00000356286.5:p.Glu123Lys
ENST00000367318.9:c.382G>A	ENSP00000356287.5:p.Glu128Lys
ENST00000367320.6:c.292G>A	ENSP00000356289.2:p.Glu98Lys
ENST00000367322.5:c.382G>A	ENSP00000356291.1:p.Glu128Lys
ENST00000421663.6:c.205G>A	ENSP00000404134.3:p.Glu69Lys
ENST00000438742.5:c.367G>A	ENSP00000414036.1:p.Glu123Lys
ENST00000455702.5:c.412G>A	ENSP00000402238.1:p.Glu138Lys
ENST00000458432.6:c.205G>A	ENSP00000387874.3:p.Glu69Lys
ENST00000466570.5:n.638G>A
ENST00000491504.5:n.1621G>A
ENST00000503459.1:n.251G>A
ENST00000509001.5:c.382G>A	ENSP00000422031.1:p.Glu128Lys
ENST00000515042.5:n.308G>A
NM_000364.3:c.412G>A	NP_000355.2:p.Glu138Lys
NM_001001430.2:c.382G>A	NP_001001430.1:p.Glu128Lys
NM_001001431.2:c.382G>A	NP_001001431.1:p.Glu128Lys
NM_001001432.2:c.367G>A	NP_001001432.1:p.Glu123Lys
NM_001276345.1:c.412G>A	NP_001263274.1:p.Glu138Lys
NM_001276346.1:c.292G>A	NP_001263275.1:p.Glu98Lys
NM_001276347.1:c.382G>A	NP_001263276.1:p.Glu128Lys
XM_006711508.2:c.382G>A	XP_006711571.1:p.Glu128Lys
XM_006711509.2:c.379G>A	XP_006711572.1:p.Glu127Lys
XM_011509938.1:c.412G>A	XP_011508240.1:p.Glu138Lys
XM_011509939.1:c.409G>A	XP_011508241.1:p.Glu137Lys
XM_011509940.1:c.412G>A	XP_011508242.1:p.Glu138Lys
XM_011509941.1:c.409G>A	XP_011508243.1:p.Glu137Lys
XM_011509942.1:c.367G>A	XP_011508244.1:p.Glu123Lys
XM_011509943.1:c.367G>A	XP_011508245.1:p.Glu123Lys
XM_011509944.1:c.364G>A	XP_011508246.1:p.Glu122Lys
XM_011509945.1:c.412G>A	XP_011508247.1:p.Glu138Lys
XM_011509946.1:c.205G>A	XP_011508248.1:p.Glu69Lys
XM_006711508.3:c.382G>A	XP_006711571.1:p.Glu128Lys
XM_006711509.3:c.379G>A	XP_006711572.1:p.Glu127Lys
XM_011509938.2:c.412G>A	XP_011508240.1:p.Glu138Lys
XM_011509940.2:c.412G>A	XP_011508242.1:p.Glu138Lys
XM_011509941.2:c.409G>A	XP_011508243.1:p.Glu137Lys
XM_011509942.2:c.367G>A	XP_011508244.1:p.Glu123Lys
XM_011509943.2:c.367G>A	XP_011508245.1:p.Glu123Lys
XM_011509944.2:c.364G>A	XP_011508246.1:p.Glu122Lys
XM_017002216.2:c.382G>A	XP_016857705.1:p.Glu128Lys
XM_017002217.1:c.382G>A	XP_016857706.1:p.Glu128Lys
XM_024449450.1:c.412G>A	XP_024305218.1:p.Glu138Lys
XM_024449454.1:c.379G>A	XP_024305222.1:p.Glu127Lys
XM_024449455.1:c.382G>A	XP_024305223.1:p.Glu128Lys
NM_000364.4:c.412G>A	NP_000355.2:p.Glu138Lys
NM_001001430.3:c.382G>A	NP_001001430.1:p.Glu128Lys
NM_001001431.3:c.382G>A	NP_001001431.1:p.Glu128Lys
NM_001001432.3:c.367G>A	NP_001001432.1:p.Glu123Lys
NM_001276345.2:c.412G>A MANE Select	NP_001263274.1:p.Glu138Lys
NM_001276346.2:c.292G>A	NP_001263275.1:p.Glu98Lys
NM_001276347.2:c.382G>A	NP_001263276.1:p.Glu128Lys