Canonical Allele Identifier: CA344205960

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 919022
• ClinVar RCV Id: RCV001176946 ; RCV002223271 ; RCV003449581 ; RCV003449582 ; RCV003449583 ; RCV003769892
• dbSNP Id: rs1339922051
• gnomAD v2: 1-201333496-C-T
• gnomAD v4: 1-201364368-C-T
• MyVariant Identifiers: chr1:g.201333496C>T (hg19) ; chr1:g.201364368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201364368C>T , CM000663.2:g.201364368C>T	GRCh38
NC_000001.10:g.201333496C>T , CM000663.1:g.201333496C>T	GRCh37
NC_000001.9:g.199600119C>T	NCBI36
NG_007556.1:g.18310G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.404G>A	ENSP00000402238.3:p.Arg135His
ENST00000367318.10:c.389G>A	ENSP00000356287.5:p.Arg130His
ENST00000367322.6:c.386G>A	ENSP00000356291.2:p.Arg129His
ENST00000412633.3:c.389G>A	ENSP00000408731.2:p.Arg130His
ENST00000422165.6:c.419G>A	ENSP00000395163.2:p.Arg140His
ENST00000438742.6:c.371G>A	ENSP00000414036.2:p.Arg124His
ENST00000455702.6:c.404G>A	ENSP00000402238.2:p.Arg135His
ENST00000651504.1:n.883G>A
ENST00000656932.1:c.419G>A MANE Select	ENSP00000499593.1:p.Arg140His
ENST00000658476.1:c.389G>A	ENSP00000499741.1:p.Arg130His
ENST00000660295.1:c.389G>A	ENSP00000499418.1:p.Arg130His
ENST00000662159.1:c.163-2369G>A	ENSP00000499796.1:n.163-2369G>A
ENST00000663843.1:c.*319G>A	ENSP00000499590.1:n.*319G>A
ENST00000666449.1:c.389G>A	ENSP00000499667.1:p.Arg130His
ENST00000236918.11:c.419G>A	ENSP00000236918.8:p.Arg140His
ENST00000360372.8:c.299G>A	ENSP00000353535.5:p.Arg100His
ENST00000367315.6:c.395G>A	ENSP00000356284.3:p.Arg132His
ENST00000367317.8:c.374G>A	ENSP00000356286.5:p.Arg125His
ENST00000367318.9:c.389G>A	ENSP00000356287.5:p.Arg130His
ENST00000367320.6:c.299G>A	ENSP00000356289.2:p.Arg100His
ENST00000367322.5:c.389G>A	ENSP00000356291.1:p.Arg130His
ENST00000421663.6:c.212G>A	ENSP00000404134.3:p.Arg71His
ENST00000438742.5:c.374G>A	ENSP00000414036.1:p.Arg125His
ENST00000455702.5:c.419G>A	ENSP00000402238.1:p.Arg140His
ENST00000458432.6:c.212G>A	ENSP00000387874.3:p.Arg71His
ENST00000466570.5:n.645G>A
ENST00000491504.5:n.1628G>A
ENST00000503459.1:n.258G>A
ENST00000509001.5:c.389G>A	ENSP00000422031.1:p.Arg130His
ENST00000515042.5:n.315G>A
NM_000364.3:c.419G>A	NP_000355.2:p.Arg140His
NM_001001430.2:c.389G>A	NP_001001430.1:p.Arg130His
NM_001001431.2:c.389G>A	NP_001001431.1:p.Arg130His
NM_001001432.2:c.374G>A	NP_001001432.1:p.Arg125His
NM_001276345.1:c.419G>A	NP_001263274.1:p.Arg140His
NM_001276346.1:c.299G>A	NP_001263275.1:p.Arg100His
NM_001276347.1:c.389G>A	NP_001263276.1:p.Arg130His
XM_006711508.2:c.389G>A	XP_006711571.1:p.Arg130His
XM_006711509.2:c.386G>A	XP_006711572.1:p.Arg129His
XM_011509938.1:c.419G>A	XP_011508240.1:p.Arg140His
XM_011509939.1:c.416G>A	XP_011508241.1:p.Arg139His
XM_011509940.1:c.419G>A	XP_011508242.1:p.Arg140His
XM_011509941.1:c.416G>A	XP_011508243.1:p.Arg139His
XM_011509942.1:c.374G>A	XP_011508244.1:p.Arg125His
XM_011509943.1:c.374G>A	XP_011508245.1:p.Arg125His
XM_011509944.1:c.371G>A	XP_011508246.1:p.Arg124His
XM_011509945.1:c.419G>A	XP_011508247.1:p.Arg140His
XM_011509946.1:c.212G>A	XP_011508248.1:p.Arg71His
XM_006711508.3:c.389G>A	XP_006711571.1:p.Arg130His
XM_006711509.3:c.386G>A	XP_006711572.1:p.Arg129His
XM_011509938.2:c.419G>A	XP_011508240.1:p.Arg140His
XM_011509940.2:c.419G>A	XP_011508242.1:p.Arg140His
XM_011509941.2:c.416G>A	XP_011508243.1:p.Arg139His
XM_011509942.2:c.374G>A	XP_011508244.1:p.Arg125His
XM_011509943.2:c.374G>A	XP_011508245.1:p.Arg125His
XM_011509944.2:c.371G>A	XP_011508246.1:p.Arg124His
XM_017002216.2:c.389G>A	XP_016857705.1:p.Arg130His
XM_017002217.1:c.389G>A	XP_016857706.1:p.Arg130His
XM_024449450.1:c.419G>A	XP_024305218.1:p.Arg140His
XM_024449454.1:c.386G>A	XP_024305222.1:p.Arg129His
XM_024449455.1:c.389G>A	XP_024305223.1:p.Arg130His
NM_000364.4:c.419G>A	NP_000355.2:p.Arg140His
NM_001001430.3:c.389G>A	NP_001001430.1:p.Arg130His
NM_001001431.3:c.389G>A	NP_001001431.1:p.Arg130His
NM_001001432.3:c.374G>A	NP_001001432.1:p.Arg125His
NM_001276345.2:c.419G>A MANE Select	NP_001263274.1:p.Arg140His
NM_001276346.2:c.299G>A	NP_001263275.1:p.Arg100His
NM_001276347.2:c.389G>A	NP_001263276.1:p.Arg130His