Canonical Allele Identifier: CA088141

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 518993
• ClinVar RCV Id: RCV000620202
• dbSNP Id: rs45525839
• ExAC: 1:201333485 G / T
• gnomAD v2: 1-201333485-G-T
• gnomAD v3: 1-201364357-G-T
• gnomAD v4: 1-201364357-G-T
• MyVariant Identifiers: chr1:g.201333485G>T (hg19) ; chr1:g.201364357G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201364357G>T , CM000663.2:g.201364357G>T	GRCh38
NC_000001.10:g.201333485G>T , CM000663.1:g.201333485G>T	GRCh37
NC_000001.9:g.199600108G>T	NCBI36
NG_007556.1:g.18321C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.415C>A	ENSP00000402238.3:p.Arg139=
ENST00000367318.10:c.400C>A	ENSP00000356287.5:p.Arg134=
ENST00000367322.6:c.397C>A	ENSP00000356291.2:p.Arg133=
ENST00000412633.3:c.400C>A	ENSP00000408731.2:p.Arg134=
ENST00000422165.6:c.430C>A	ENSP00000395163.2:p.Arg144=
ENST00000438742.6:c.382C>A	ENSP00000414036.2:p.Arg128=
ENST00000455702.6:c.415C>A	ENSP00000402238.2:p.Arg139=
ENST00000651504.1:n.894C>A
ENST00000656932.1:c.430C>A MANE Select	ENSP00000499593.1:p.Arg144=
ENST00000658476.1:c.400C>A	ENSP00000499741.1:p.Arg134=
ENST00000660295.1:c.400C>A	ENSP00000499418.1:p.Arg134=
ENST00000662159.1:c.163-2358C>A	ENSP00000499796.1:n.163-2358C>A
ENST00000663843.1:c.*330C>A	ENSP00000499590.1:n.*330C>A
ENST00000666449.1:c.400C>A	ENSP00000499667.1:p.Arg134=
ENST00000236918.11:c.430C>A	ENSP00000236918.8:p.Arg144=
ENST00000360372.8:c.310C>A	ENSP00000353535.5:p.Arg104=
ENST00000367315.6:c.406C>A	ENSP00000356284.3:p.Arg136=
ENST00000367317.8:c.385C>A	ENSP00000356286.5:p.Arg129=
ENST00000367318.9:c.400C>A	ENSP00000356287.5:p.Arg134=
ENST00000367320.6:c.310C>A	ENSP00000356289.2:p.Arg104=
ENST00000367322.5:c.400C>A	ENSP00000356291.1:p.Arg134=
ENST00000421663.6:c.223C>A	ENSP00000404134.3:p.Arg75=
ENST00000438742.5:c.385C>A	ENSP00000414036.1:p.Arg129=
ENST00000455702.5:c.430C>A	ENSP00000402238.1:p.Arg144=
ENST00000458432.6:c.223C>A	ENSP00000387874.3:p.Arg75=
ENST00000466570.5:n.656C>A
ENST00000491504.5:n.1639C>A
ENST00000503459.1:n.269C>A
ENST00000509001.5:c.400C>A	ENSP00000422031.1:p.Arg134=
ENST00000515042.5:n.326C>A
NM_000364.3:c.430C>A	NP_000355.2:p.Arg144=
NM_001001430.2:c.400C>A	NP_001001430.1:p.Arg134=
NM_001001431.2:c.400C>A	NP_001001431.1:p.Arg134=
NM_001001432.2:c.385C>A	NP_001001432.1:p.Arg129=
NM_001276345.1:c.430C>A	NP_001263274.1:p.Arg144=
NM_001276346.1:c.310C>A	NP_001263275.1:p.Arg104=
NM_001276347.1:c.400C>A	NP_001263276.1:p.Arg134=
XM_006711508.2:c.400C>A	XP_006711571.1:p.Arg134=
XM_006711509.2:c.397C>A	XP_006711572.1:p.Arg133=
XM_011509938.1:c.430C>A	XP_011508240.1:p.Arg144=
XM_011509939.1:c.427C>A	XP_011508241.1:p.Arg143=
XM_011509940.1:c.430C>A	XP_011508242.1:p.Arg144=
XM_011509941.1:c.427C>A	XP_011508243.1:p.Arg143=
XM_011509942.1:c.385C>A	XP_011508244.1:p.Arg129=
XM_011509943.1:c.385C>A	XP_011508245.1:p.Arg129=
XM_011509944.1:c.382C>A	XP_011508246.1:p.Arg128=
XM_011509945.1:c.430C>A	XP_011508247.1:p.Arg144=
XM_011509946.1:c.223C>A	XP_011508248.1:p.Arg75=
XM_006711508.3:c.400C>A	XP_006711571.1:p.Arg134=
XM_006711509.3:c.397C>A	XP_006711572.1:p.Arg133=
XM_011509938.2:c.430C>A	XP_011508240.1:p.Arg144=
XM_011509940.2:c.430C>A	XP_011508242.1:p.Arg144=
XM_011509941.2:c.427C>A	XP_011508243.1:p.Arg143=
XM_011509942.2:c.385C>A	XP_011508244.1:p.Arg129=
XM_011509943.2:c.385C>A	XP_011508245.1:p.Arg129=
XM_011509944.2:c.382C>A	XP_011508246.1:p.Arg128=
XM_017002216.2:c.400C>A	XP_016857705.1:p.Arg134=
XM_017002217.1:c.400C>A	XP_016857706.1:p.Arg134=
XM_024449450.1:c.430C>A	XP_024305218.1:p.Arg144=
XM_024449454.1:c.397C>A	XP_024305222.1:p.Arg133=
XM_024449455.1:c.400C>A	XP_024305223.1:p.Arg134=
NM_000364.4:c.430C>A	NP_000355.2:p.Arg144=
NM_001001430.3:c.400C>A	NP_001001430.1:p.Arg134=
NM_001001431.3:c.400C>A	NP_001001431.1:p.Arg134=
NM_001001432.3:c.385C>A	NP_001001432.1:p.Arg129=
NM_001276345.2:c.430C>A MANE Select	NP_001263274.1:p.Arg144=
NM_001276346.2:c.310C>A	NP_001263275.1:p.Arg104=
NM_001276347.2:c.400C>A	NP_001263276.1:p.Arg134=