Canonical Allele Identifier: CA004302

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 43629
• ClinVar RCV Id: RCV001258056 ; RCV003450686 ; RCV003450687 ; RCV003450688
• dbSNP Id: rs397516457
• gnomAD v4: 1-201365291-C-A
• MyVariant Identifiers: chr1:g.201334419C>A (hg19) ; chr1:g.201365291C>A (hg38)
• PubMed: PMID:10525521 ; PMID:10978365 ; PMID:11560853 ; PMID:11606294 ; PMID:14654368 ; PMID:14722098 ; PMID:18258667 ; PMID:20513729 ; PMID:20624503 ; PMID:22144547 ; PMID:23074333 ; PMID:25611685 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201365291C>A , CM000663.2:g.201365291C>A	GRCh38
NC_000001.10:g.201334419C>A , CM000663.1:g.201334419C>A	GRCh37
NC_000001.9:g.199601042C>A	NCBI36
NG_007556.1:g.17387G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.296G>T	ENSP00000402238.3:p.Arg99Leu
ENST00000367318.10:c.281G>T	ENSP00000356287.5:p.Arg94Leu
ENST00000367322.6:c.278G>T	ENSP00000356291.2:p.Arg93Leu
ENST00000412633.3:c.281G>T	ENSP00000408731.2:p.Arg94Leu
ENST00000422165.6:c.311G>T	ENSP00000395163.2:p.Arg104Leu
ENST00000438742.6:c.263G>T	ENSP00000414036.2:p.Arg88Leu
ENST00000455702.6:c.296G>T	ENSP00000402238.2:p.Arg99Leu
ENST00000651504.1:n.775G>T
ENST00000656932.1:c.311G>T MANE Select	ENSP00000499593.1:p.Arg104Leu
ENST00000658476.1:c.281G>T	ENSP00000499741.1:p.Arg94Leu
ENST00000660295.1:c.281G>T	ENSP00000499418.1:p.Arg94Leu
ENST00000662159.1:c.162+2487G>T	ENSP00000499796.1:n.162+2487G>T
ENST00000663843.1:c.*211G>T	ENSP00000499590.1:n.*211G>T
ENST00000666449.1:c.281G>T	ENSP00000499667.1:p.Arg94Leu
ENST00000236918.11:c.311G>T	ENSP00000236918.8:p.Arg104Leu
ENST00000360372.8:c.291+319G>T	ENSP00000353535.5:n.291+319G>T
ENST00000367315.6:c.287G>T	ENSP00000356284.3:p.Arg96Leu
ENST00000367317.8:c.266G>T	ENSP00000356286.5:p.Arg89Leu
ENST00000367318.9:c.281G>T	ENSP00000356287.5:p.Arg94Leu
ENST00000367320.6:c.291+319G>T	ENSP00000356289.2:n.291+319G>T
ENST00000367322.5:c.281G>T	ENSP00000356291.1:p.Arg94Leu
ENST00000412633.2:c.278G>T	ENSP00000408731.1:p.Arg93Leu
ENST00000421663.6:c.104G>T	ENSP00000404134.3:p.Arg35Leu
ENST00000422165.5:c.296G>T	ENSP00000395163.1:p.Arg99Leu
ENST00000438742.5:c.266G>T	ENSP00000414036.1:p.Arg89Leu
ENST00000455702.5:c.311G>T	ENSP00000402238.1:p.Arg104Leu
ENST00000458432.6:c.104G>T	ENSP00000387874.3:p.Arg35Leu
ENST00000466570.5:n.537G>T
ENST00000491504.5:n.1520G>T
ENST00000503459.1:n.150G>T
ENST00000509001.5:c.281G>T	ENSP00000422031.1:p.Arg94Leu
ENST00000515042.5:n.207G>T
NM_000364.3:c.311G>T	NP_000355.2:p.Arg104Leu
NM_001001430.2:c.281G>T	NP_001001430.1:p.Arg94Leu
NM_001001431.2:c.281G>T	NP_001001431.1:p.Arg94Leu
NM_001001432.2:c.266G>T	NP_001001432.1:p.Arg89Leu
NM_001276345.1:c.311G>T	NP_001263274.1:p.Arg104Leu
NM_001276346.1:c.291+319G>T	NP_001263275.1:n.291+319G>T
NM_001276347.1:c.281G>T	NP_001263276.1:p.Arg94Leu
XM_006711508.2:c.281G>T	XP_006711571.1:p.Arg94Leu
XM_006711509.2:c.278G>T	XP_006711572.1:p.Arg93Leu
XM_011509938.1:c.311G>T	XP_011508240.1:p.Arg104Leu
XM_011509939.1:c.308G>T	XP_011508241.1:p.Arg103Leu
XM_011509940.1:c.311G>T	XP_011508242.1:p.Arg104Leu
XM_011509941.1:c.308G>T	XP_011508243.1:p.Arg103Leu
XM_011509942.1:c.266G>T	XP_011508244.1:p.Arg89Leu
XM_011509943.1:c.266G>T	XP_011508245.1:p.Arg89Leu
XM_011509944.1:c.263G>T	XP_011508246.1:p.Arg88Leu
XM_011509945.1:c.311G>T	XP_011508247.1:p.Arg104Leu
XM_011509946.1:c.104G>T	XP_011508248.1:p.Arg35Leu
XM_006711508.3:c.281G>T	XP_006711571.1:p.Arg94Leu
XM_006711509.3:c.278G>T	XP_006711572.1:p.Arg93Leu
XM_011509938.2:c.311G>T	XP_011508240.1:p.Arg104Leu
XM_011509940.2:c.311G>T	XP_011508242.1:p.Arg104Leu
XM_011509941.2:c.308G>T	XP_011508243.1:p.Arg103Leu
XM_011509942.2:c.266G>T	XP_011508244.1:p.Arg89Leu
XM_011509943.2:c.266G>T	XP_011508245.1:p.Arg89Leu
XM_011509944.2:c.263G>T	XP_011508246.1:p.Arg88Leu
XM_017002216.2:c.281G>T	XP_016857705.1:p.Arg94Leu
XM_017002217.1:c.281G>T	XP_016857706.1:p.Arg94Leu
XM_024449450.1:c.311G>T	XP_024305218.1:p.Arg104Leu
XM_024449454.1:c.278G>T	XP_024305222.1:p.Arg93Leu
XM_024449455.1:c.281G>T	XP_024305223.1:p.Arg94Leu
NM_000364.4:c.311G>T	NP_000355.2:p.Arg104Leu
NM_001001430.3:c.281G>T	NP_001001430.1:p.Arg94Leu
NM_001001431.3:c.281G>T	NP_001001431.1:p.Arg94Leu
NM_001001432.3:c.266G>T	NP_001001432.1:p.Arg89Leu
NM_001276345.2:c.311G>T MANE Select	NP_001263274.1:p.Arg104Leu
NM_001276346.2:c.291+319G>T	NP_001263275.1:n.291+319G>T
NM_001276347.2:c.281G>T	NP_001263276.1:p.Arg94Leu