Canonical Allele Identifier: CA005120

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 181633
• ClinVar RCV Id: RCV000159318 ; RCV000768714
• dbSNP Id: rs730881113
• gnomAD v2: 1-201330402-C-T
• gnomAD v3: 1-201361274-C-T
• gnomAD v4: 1-201361274-C-T
• MyVariant Identifiers: chr1:g.201330402C>T (hg19) ; chr1:g.201361274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201361274C>T , CM000663.2:g.201361274C>T	GRCh38
NC_000001.10:g.201330402C>T , CM000663.1:g.201330402C>T	GRCh37
NC_000001.9:g.199597025C>T	NCBI36
NG_007556.1:g.21404G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.795+5G>A	ENSP00000402238.3:n.795+5G>A
ENST00000367318.10:c.780+5G>A	ENSP00000356287.5:n.780+5G>A
ENST00000367322.6:c.768+5G>A	ENSP00000356291.2:n.768+5G>A
ENST00000412633.3:c.771+5G>A	ENSP00000408731.2:n.771+5G>A
ENST00000422165.6:c.801+5G>A	ENSP00000395163.2:n.801+5G>A
ENST00000438742.6:c.759+5G>A	ENSP00000414036.2:n.759+5G>A
ENST00000455702.6:c.795+5G>A	ENSP00000402238.2:n.795+5G>A
ENST00000651504.1:n.1271+5G>A
ENST00000656932.1:c.810+5G>A MANE Select	ENSP00000499593.1:n.810+5G>A
ENST00000658476.1:c.785G>A	ENSP00000499741.1:p.Gly262Asp
ENST00000660295.1:c.780+5G>A	ENSP00000499418.1:n.780+5G>A
ENST00000662159.1:c.*169+5G>A	ENSP00000499796.1:n.*169+5G>A
ENST00000663843.1:c.*710+5G>A	ENSP00000499590.1:n.*710+5G>A
ENST00000666449.1:c.*55+5G>A	ENSP00000499667.1:n.*55+5G>A
ENST00000236918.11:c.810+5G>A	ENSP00000236918.8:n.810+5G>A
ENST00000360372.8:c.681+5G>A	ENSP00000353535.5:n.681+5G>A
ENST00000367315.6:c.789+5G>A	ENSP00000356284.3:n.789+5G>A
ENST00000367317.8:c.762+5G>A	ENSP00000356286.5:n.762+5G>A
ENST00000367318.9:c.780+5G>A	ENSP00000356287.5:n.780+5G>A
ENST00000367320.6:c.681+5G>A	ENSP00000356289.2:n.681+5G>A
ENST00000367322.5:c.771+5G>A	ENSP00000356291.1:n.771+5G>A
ENST00000421663.6:c.594+5G>A	ENSP00000404134.3:n.594+5G>A
ENST00000438742.5:c.762+5G>A	ENSP00000414036.1:n.762+5G>A
ENST00000458432.6:c.594+5G>A	ENSP00000387874.3:n.594+5G>A
ENST00000460780.5:n.1108G>A
ENST00000476888.5:n.227+5G>A
ENST00000477035.1:n.79+5G>A
ENST00000491504.5:n.2019+5G>A
ENST00000509001.5:c.780+5G>A	ENSP00000422031.1:n.780+5G>A
ENST00000515042.5:n.711G>A
NM_000364.3:c.801+5G>A	NP_000355.2:n.801+5G>A
NM_001001430.2:c.780+5G>A	NP_001001430.1:n.780+5G>A
NM_001001431.2:c.771+5G>A	NP_001001431.1:n.771+5G>A
NM_001001432.2:c.762+5G>A	NP_001001432.1:n.762+5G>A
NM_001276345.1:c.810+5G>A	NP_001263274.1:n.810+5G>A
NM_001276346.1:c.681+5G>A	NP_001263275.1:n.681+5G>A
NM_001276347.1:c.780+5G>A	NP_001263276.1:n.780+5G>A
XM_006711508.2:c.780+5G>A	XP_006711571.1:n.780+5G>A
XM_006711509.2:c.777+5G>A	XP_006711572.1:n.777+5G>A
XM_011509938.1:c.810+5G>A	XP_011508240.1:n.810+5G>A
XM_011509939.1:c.807+5G>A	XP_011508241.1:n.807+5G>A
XM_011509940.1:c.807+5G>A	XP_011508242.1:n.807+5G>A
XM_011509941.1:c.804+5G>A	XP_011508243.1:n.804+5G>A
XM_011509942.1:c.765+5G>A	XP_011508244.1:n.765+5G>A
XM_011509943.1:c.765+5G>A	XP_011508245.1:n.765+5G>A
XM_011509944.1:c.762+5G>A	XP_011508246.1:n.762+5G>A
XM_011509946.1:c.603+5G>A	XP_011508248.1:n.603+5G>A
XM_006711508.3:c.780+5G>A	XP_006711571.1:n.780+5G>A
XM_006711509.3:c.777+5G>A	XP_006711572.1:n.777+5G>A
XM_011509938.2:c.810+5G>A	XP_011508240.1:n.810+5G>A
XM_011509940.2:c.807+5G>A	XP_011508242.1:n.807+5G>A
XM_011509941.2:c.804+5G>A	XP_011508243.1:n.804+5G>A
XM_011509942.2:c.765+5G>A	XP_011508244.1:n.765+5G>A
XM_011509943.2:c.765+5G>A	XP_011508245.1:n.765+5G>A
XM_011509944.2:c.762+5G>A	XP_011508246.1:n.762+5G>A
XM_017002216.2:c.777+5G>A	XP_016857705.1:n.777+5G>A
XM_017002217.1:c.771+5G>A	XP_016857706.1:n.771+5G>A
XM_024449450.1:c.810+5G>A	XP_024305218.1:n.810+5G>A
XM_024449454.1:c.777+5G>A	XP_024305222.1:n.777+5G>A
XM_024449455.1:c.777+5G>A	XP_024305223.1:n.777+5G>A
NM_000364.4:c.801+5G>A	NP_000355.2:n.801+5G>A
NM_001001430.3:c.780+5G>A	NP_001001430.1:n.780+5G>A
NM_001001431.3:c.771+5G>A	NP_001001431.1:n.771+5G>A
NM_001001432.3:c.762+5G>A	NP_001001432.1:n.762+5G>A
NM_001276345.2:c.810+5G>A MANE Select	NP_001263274.1:n.810+5G>A
NM_001276346.2:c.681+5G>A	NP_001263275.1:n.681+5G>A
NM_001276347.2:c.780+5G>A	NP_001263276.1:n.780+5G>A