Canonical Allele Identifier: CA028764

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 1636940
• ClinVar RCV Id: RCV002135599 ; RCV002331802 ; RCV003454020 ; RCV003454021 ; RCV003454022 ; RCV004005469
• dbSNP Id: rs2102253556
• gnomAD v4: 1-201364343-C-T
• MyVariant Identifiers: chr1:g.201333471C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201364343C>T , CM000663.2:g.201364343C>T	GRCh38
NC_000001.10:g.201333471C>T , CM000663.1:g.201333471C>T	GRCh37
NC_000001.9:g.199600094C>T	NCBI36
NG_007556.1:g.18335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455702.7:c.429G>A	ENSP00000402238.3:p.Gln143=
ENST00000367318.10:c.414G>A	ENSP00000356287.5:p.Gln138=
ENST00000367322.6:c.411G>A	ENSP00000356291.2:p.Gln137=
ENST00000412633.3:c.414G>A	ENSP00000408731.2:p.Gln138=
ENST00000422165.6:c.444G>A	ENSP00000395163.2:p.Gln148=
ENST00000438742.6:c.396G>A	ENSP00000414036.2:p.Gln132=
ENST00000455702.6:c.429G>A	ENSP00000402238.2:p.Gln143=
ENST00000651504.1:n.908G>A
ENST00000656932.1:c.444G>A MANE Select	ENSP00000499593.1:p.Gln148=
ENST00000658476.1:c.414G>A	ENSP00000499741.1:p.Gln138=
ENST00000660295.1:c.414G>A	ENSP00000499418.1:p.Gln138=
ENST00000662159.1:c.163-2344G>A	ENSP00000499796.1:n.163-2344G>A
ENST00000663843.1:c.*344G>A	ENSP00000499590.1:n.*344G>A
ENST00000666449.1:c.414G>A	ENSP00000499667.1:p.Gln138=
ENST00000236918.11:c.444G>A	ENSP00000236918.8:p.Gln148=
ENST00000360372.8:c.324G>A	ENSP00000353535.5:p.Gln108=
ENST00000367315.6:c.420G>A	ENSP00000356284.3:p.Gln140=
ENST00000367317.8:c.399G>A	ENSP00000356286.5:p.Gln133=
ENST00000367318.9:c.414G>A	ENSP00000356287.5:p.Gln138=
ENST00000367320.6:c.324G>A	ENSP00000356289.2:p.Gln108=
ENST00000367322.5:c.414G>A	ENSP00000356291.1:p.Gln138=
ENST00000421663.6:c.237G>A	ENSP00000404134.3:p.Gln79=
ENST00000438742.5:c.399G>A	ENSP00000414036.1:p.Gln133=
ENST00000455702.5:c.444G>A	ENSP00000402238.1:p.Gln148=
ENST00000458432.6:c.237G>A	ENSP00000387874.3:p.Gln79=
ENST00000466570.5:n.670G>A
ENST00000491504.5:n.1653G>A
ENST00000503459.1:n.283G>A
ENST00000509001.5:c.414G>A	ENSP00000422031.1:p.Gln138=
ENST00000515042.5:n.340G>A
NM_000364.3:c.444G>A	NP_000355.2:p.Gln148=
NM_001001430.2:c.414G>A	NP_001001430.1:p.Gln138=
NM_001001431.2:c.414G>A	NP_001001431.1:p.Gln138=
NM_001001432.2:c.399G>A	NP_001001432.1:p.Gln133=
NM_001276345.1:c.444G>A	NP_001263274.1:p.Gln148=
NM_001276346.1:c.324G>A	NP_001263275.1:p.Gln108=
NM_001276347.1:c.414G>A	NP_001263276.1:p.Gln138=
XM_006711508.2:c.414G>A	XP_006711571.1:p.Gln138=
XM_006711509.2:c.411G>A	XP_006711572.1:p.Gln137=
XM_011509938.1:c.444G>A	XP_011508240.1:p.Gln148=
XM_011509939.1:c.441G>A	XP_011508241.1:p.Gln147=
XM_011509940.1:c.444G>A	XP_011508242.1:p.Gln148=
XM_011509941.1:c.441G>A	XP_011508243.1:p.Gln147=
XM_011509942.1:c.399G>A	XP_011508244.1:p.Gln133=
XM_011509943.1:c.399G>A	XP_011508245.1:p.Gln133=
XM_011509944.1:c.396G>A	XP_011508246.1:p.Gln132=
XM_011509945.1:c.444G>A	XP_011508247.1:p.Gln148=
XM_011509946.1:c.237G>A	XP_011508248.1:p.Gln79=
XM_006711508.3:c.414G>A	XP_006711571.1:p.Gln138=
XM_006711509.3:c.411G>A	XP_006711572.1:p.Gln137=
XM_011509938.2:c.444G>A	XP_011508240.1:p.Gln148=
XM_011509940.2:c.444G>A	XP_011508242.1:p.Gln148=
XM_011509941.2:c.441G>A	XP_011508243.1:p.Gln147=
XM_011509942.2:c.399G>A	XP_011508244.1:p.Gln133=
XM_011509943.2:c.399G>A	XP_011508245.1:p.Gln133=
XM_011509944.2:c.396G>A	XP_011508246.1:p.Gln132=
XM_017002216.2:c.414G>A	XP_016857705.1:p.Gln138=
XM_017002217.1:c.414G>A	XP_016857706.1:p.Gln138=
XM_024449450.1:c.444G>A	XP_024305218.1:p.Gln148=
XM_024449454.1:c.411G>A	XP_024305222.1:p.Gln137=
XM_024449455.1:c.414G>A	XP_024305223.1:p.Gln138=
NM_000364.4:c.444G>A	NP_000355.2:p.Gln148=
NM_001001430.3:c.414G>A	NP_001001430.1:p.Gln138=
NM_001001431.3:c.414G>A	NP_001001431.1:p.Gln138=
NM_001001432.3:c.399G>A	NP_001001432.1:p.Gln133=
NM_001276345.2:c.444G>A MANE Select	NP_001263274.1:p.Gln148=
NM_001276346.2:c.324G>A	NP_001263275.1:p.Gln108=
NM_001276347.2:c.414G>A	NP_001263276.1:p.Gln138=