Canonical Allele Identifier: CA344202333

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 431937
• ClinVar RCV Id: RCV000498554
• dbSNP Id: rs1553279294
• MyVariant Identifiers: chr1:g.201328755T>C (hg19) ; chr1:g.201359627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201359627T>C , CM000663.2:g.201359627T>C	GRCh38
NC_000001.10:g.201328755T>C , CM000663.1:g.201328755T>C	GRCh37
NC_000001.9:g.199595378T>C	NCBI36
NG_007556.1:g.23051A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.832A>G	ENSP00000402238.3:p.Lys278Glu
ENST00000367318.10:c.817A>G	ENSP00000356287.5:p.Lys273Glu
ENST00000367322.6:c.805A>G	ENSP00000356291.2:p.Lys269Glu
ENST00000412633.3:c.808A>G	ENSP00000408731.2:p.Lys270Glu
ENST00000422165.6:c.838A>G	ENSP00000395163.2:p.Lys280Glu
ENST00000438742.6:c.796A>G	ENSP00000414036.2:p.Lys266Glu
ENST00000651504.1:n.1308A>G
ENST00000656932.1:c.847A>G MANE Select	ENSP00000499593.1:p.Lys283Glu
ENST00000658476.1:c.882A>G	ENSP00000499741.1:p.Arg294=
ENST00000660295.1:c.817A>G	ENSP00000499418.1:p.Lys273Glu
ENST00000662159.1:c.*206A>G	ENSP00000499796.1:n.*206A>G
ENST00000663843.1:c.*747A>G	ENSP00000499590.1:n.*747A>G
ENST00000666449.1:c.*92A>G	ENSP00000499667.1:n.*92A>G
ENST00000236918.11:c.847A>G	ENSP00000236918.8:p.Lys283Glu
ENST00000360372.8:c.718A>G	ENSP00000353535.5:p.Lys240Glu
ENST00000367315.6:c.826A>G	ENSP00000356284.3:p.Lys276Glu
ENST00000367317.8:c.799A>G	ENSP00000356286.5:p.Lys267Glu
ENST00000367318.9:c.817A>G	ENSP00000356287.5:p.Lys273Glu
ENST00000367320.6:c.718A>G	ENSP00000356289.2:p.Lys240Glu
ENST00000367322.5:c.808A>G	ENSP00000356291.1:p.Lys270Glu
ENST00000421663.6:c.631A>G	ENSP00000404134.3:p.Lys211Glu
ENST00000438742.5:c.799A>G	ENSP00000414036.1:p.Lys267Glu
ENST00000458432.6:c.631A>G	ENSP00000387874.3:p.Lys211Glu
ENST00000460780.5:n.1966A>G
ENST00000476888.5:n.264A>G
ENST00000491504.5:n.2056A>G
ENST00000509001.5:c.817A>G	ENSP00000422031.1:p.Lys273Glu
NM_000364.3:c.838A>G	NP_000355.2:p.Lys280Glu
NM_001001430.2:c.817A>G	NP_001001430.1:p.Lys273Glu
NM_001001431.2:c.808A>G	NP_001001431.1:p.Lys270Glu
NM_001001432.2:c.799A>G	NP_001001432.1:p.Lys267Glu
NM_001276345.1:c.847A>G	NP_001263274.1:p.Lys283Glu
NM_001276346.1:c.718A>G	NP_001263275.1:p.Lys240Glu
NM_001276347.1:c.817A>G	NP_001263276.1:p.Lys273Glu
XM_006711508.2:c.817A>G	XP_006711571.1:p.Lys273Glu
XM_006711509.2:c.814A>G	XP_006711572.1:p.Lys272Glu
XM_011509938.1:c.847A>G	XP_011508240.1:p.Lys283Glu
XM_011509939.1:c.844A>G	XP_011508241.1:p.Lys282Glu
XM_011509940.1:c.844A>G	XP_011508242.1:p.Lys282Glu
XM_011509941.1:c.841A>G	XP_011508243.1:p.Lys281Glu
XM_011509942.1:c.802A>G	XP_011508244.1:p.Lys268Glu
XM_011509943.1:c.802A>G	XP_011508245.1:p.Lys268Glu
XM_011509944.1:c.799A>G	XP_011508246.1:p.Lys267Glu
XM_011509946.1:c.640A>G	XP_011508248.1:p.Lys214Glu
XM_006711508.3:c.817A>G	XP_006711571.1:p.Lys273Glu
XM_006711509.3:c.814A>G	XP_006711572.1:p.Lys272Glu
XM_011509938.2:c.847A>G	XP_011508240.1:p.Lys283Glu
XM_011509940.2:c.844A>G	XP_011508242.1:p.Lys282Glu
XM_011509941.2:c.841A>G	XP_011508243.1:p.Lys281Glu
XM_011509942.2:c.802A>G	XP_011508244.1:p.Lys268Glu
XM_011509943.2:c.802A>G	XP_011508245.1:p.Lys268Glu
XM_011509944.2:c.799A>G	XP_011508246.1:p.Lys267Glu
XM_017002216.2:c.814A>G	XP_016857705.1:p.Lys272Glu
XM_017002217.1:c.808A>G	XP_016857706.1:p.Lys270Glu
XM_024449450.1:c.847A>G	XP_024305218.1:p.Lys283Glu
XM_024449454.1:c.814A>G	XP_024305222.1:p.Lys272Glu
XM_024449455.1:c.814A>G	XP_024305223.1:p.Lys272Glu
NM_000364.4:c.838A>G	NP_000355.2:p.Lys280Glu
NM_001001430.3:c.817A>G	NP_001001430.1:p.Lys273Glu
NM_001001431.3:c.808A>G	NP_001001431.1:p.Lys270Glu
NM_001001432.3:c.799A>G	NP_001001432.1:p.Lys267Glu
NM_001276345.2:c.847A>G MANE Select	NP_001263274.1:p.Lys283Glu
NM_001276346.2:c.718A>G	NP_001263275.1:p.Lys240Glu
NM_001276347.2:c.817A>G	NP_001263276.1:p.Lys273Glu