Canonical Allele Identifier: CA004638

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 43647
• ClinVar RCV Id: RCV000036595 ; RCV000225721 ; RCV004018798 ; RCV000703215 ; RCV001798104 ; RCV002470731
• dbSNP Id: rs45501500
• gnomAD v4: 1-201363390-C-T
• MyVariant Identifiers: chr1:g.201332518C>T (hg19) ; chr1:g.201363390C>T (hg38)
• PubMed: PMID:19412328 ; PMID:20031601 ; PMID:20458009

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201363390C>T , CM000663.2:g.201363390C>T	GRCh38
NC_000001.10:g.201332518C>T , CM000663.1:g.201332518C>T	GRCh37
NC_000001.9:g.199599141C>T	NCBI36
NG_007556.1:g.19288G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455702.7:c.491G>A	ENSP00000402238.3:p.Arg164Gln
ENST00000367318.10:c.476G>A	ENSP00000356287.5:p.Arg159Gln
ENST00000367322.6:c.473G>A	ENSP00000356291.2:p.Arg158Gln
ENST00000412633.3:c.476G>A	ENSP00000408731.2:p.Arg159Gln
ENST00000422165.6:c.506G>A	ENSP00000395163.2:p.Arg169Gln
ENST00000438742.6:c.458G>A	ENSP00000414036.2:p.Arg153Gln
ENST00000455702.6:c.491G>A	ENSP00000402238.2:p.Arg164Gln
ENST00000651504.1:n.970G>A
ENST00000656932.1:c.506G>A MANE Select	ENSP00000499593.1:p.Arg169Gln
ENST00000658476.1:c.476G>A	ENSP00000499741.1:p.Arg159Gln
ENST00000660295.1:c.476G>A	ENSP00000499418.1:p.Arg159Gln
ENST00000662159.1:c.163-1391G>A	ENSP00000499796.1:n.163-1391G>A
ENST00000663843.1:c.*406G>A	ENSP00000499590.1:n.*406G>A
ENST00000666449.1:c.476G>A	ENSP00000499667.1:p.Arg159Gln
ENST00000236918.11:c.506G>A	ENSP00000236918.8:p.Arg169Gln
ENST00000360372.8:c.386G>A	ENSP00000353535.5:p.Arg129Gln
ENST00000367315.6:c.482G>A	ENSP00000356284.3:p.Arg161Gln
ENST00000367317.8:c.461G>A	ENSP00000356286.5:p.Arg154Gln
ENST00000367318.9:c.476G>A	ENSP00000356287.5:p.Arg159Gln
ENST00000367320.6:c.386G>A	ENSP00000356289.2:p.Arg129Gln
ENST00000367322.5:c.476G>A	ENSP00000356291.1:p.Arg159Gln
ENST00000421663.6:c.299G>A	ENSP00000404134.3:p.Arg100Gln
ENST00000438742.5:c.461G>A	ENSP00000414036.1:p.Arg154Gln
ENST00000455702.5:c.506G>A	ENSP00000402238.1:p.Arg169Gln
ENST00000458432.6:c.299G>A	ENSP00000387874.3:p.Arg100Gln
ENST00000460780.5:n.799G>A
ENST00000466570.5:n.732G>A
ENST00000491504.5:n.1715G>A
ENST00000509001.5:c.476G>A	ENSP00000422031.1:p.Arg159Gln
ENST00000515042.5:n.402G>A
NM_000364.3:c.506G>A	NP_000355.2:p.Arg169Gln
NM_001001430.2:c.476G>A	NP_001001430.1:p.Arg159Gln
NM_001001431.2:c.476G>A	NP_001001431.1:p.Arg159Gln
NM_001001432.2:c.461G>A	NP_001001432.1:p.Arg154Gln
NM_001276345.1:c.506G>A	NP_001263274.1:p.Arg169Gln
NM_001276346.1:c.386G>A	NP_001263275.1:p.Arg129Gln
NM_001276347.1:c.476G>A	NP_001263276.1:p.Arg159Gln
XM_006711508.2:c.476G>A	XP_006711571.1:p.Arg159Gln
XM_006711509.2:c.473G>A	XP_006711572.1:p.Arg158Gln
XM_011509938.1:c.506G>A	XP_011508240.1:p.Arg169Gln
XM_011509939.1:c.503G>A	XP_011508241.1:p.Arg168Gln
XM_011509940.1:c.506G>A	XP_011508242.1:p.Arg169Gln
XM_011509941.1:c.503G>A	XP_011508243.1:p.Arg168Gln
XM_011509942.1:c.461G>A	XP_011508244.1:p.Arg154Gln
XM_011509943.1:c.461G>A	XP_011508245.1:p.Arg154Gln
XM_011509944.1:c.458G>A	XP_011508246.1:p.Arg153Gln
XM_011509946.1:c.299G>A	XP_011508248.1:p.Arg100Gln
XM_006711508.3:c.476G>A	XP_006711571.1:p.Arg159Gln
XM_006711509.3:c.473G>A	XP_006711572.1:p.Arg158Gln
XM_011509938.2:c.506G>A	XP_011508240.1:p.Arg169Gln
XM_011509940.2:c.506G>A	XP_011508242.1:p.Arg169Gln
XM_011509941.2:c.503G>A	XP_011508243.1:p.Arg168Gln
XM_011509942.2:c.461G>A	XP_011508244.1:p.Arg154Gln
XM_011509943.2:c.461G>A	XP_011508245.1:p.Arg154Gln
XM_011509944.2:c.458G>A	XP_011508246.1:p.Arg153Gln
XM_017002216.2:c.476G>A	XP_016857705.1:p.Arg159Gln
XM_017002217.1:c.476G>A	XP_016857706.1:p.Arg159Gln
XM_024449450.1:c.506G>A	XP_024305218.1:p.Arg169Gln
XM_024449454.1:c.473G>A	XP_024305222.1:p.Arg158Gln
XM_024449455.1:c.476G>A	XP_024305223.1:p.Arg159Gln
NM_000364.4:c.506G>A	NP_000355.2:p.Arg169Gln
NM_001001430.3:c.476G>A	NP_001001430.1:p.Arg159Gln
NM_001001431.3:c.476G>A	NP_001001431.1:p.Arg159Gln
NM_001001432.3:c.461G>A	NP_001001432.1:p.Arg154Gln
NM_001276345.2:c.506G>A MANE Select	NP_001263274.1:p.Arg169Gln
NM_001276346.2:c.386G>A	NP_001263275.1:p.Arg129Gln
NM_001276347.2:c.476G>A	NP_001263276.1:p.Arg159Gln