Canonical Allele Identifier: CA10611673

Gene: TTN

Linked Data

• ClinVar Variation Id: 332868
• ClinVar RCV Id: RCV000260165 ; RCV000273583 ; RCV000319258 ; RCV000355350 ; RCV000367926 ; RCV002488709
• dbSNP Id: rs886055276
• gnomAD v4: 2-178625302-A-T
• MyVariant Identifiers: chr2:g.179490029A>T (hg19) ; chr2:g.178625302A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178625302A>T , CM000664.2:g.178625302A>T	GRCh38
NC_000002.11:g.179490029A>T , CM000664.1:g.179490029A>T	GRCh37
NC_000002.10:g.179198274A>T	NCBI36
NG_011618.3:g.210501T>A , LRG_391:g.210501T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36815T>A	ENSP00000343764.6:p.Phe12272Tyr
ENST00000342175.11:c.17900T>A	ENSP00000340554.6:p.Phe5967Tyr
ENST00000359218.10:c.17699T>A	ENSP00000352154.5:p.Phe5900Tyr
ENST00000342175.10:c.17900T>A	ENSP00000340554.6:p.Phe5967Tyr
ENST00000342992.10:c.36815T>A	ENSP00000343764.6:p.Phe12272Tyr
ENST00000359218.9:c.17699T>A	ENSP00000352154.5:p.Phe5900Tyr
ENST00000460472.6:c.17324T>A	ENSP00000434586.1:p.Phe5775Tyr
ENST00000589042.5:c.44519T>A MANE Select	ENSP00000467141.1:p.Phe14840Tyr
ENST00000591111.5:c.39596T>A	ENSP00000465570.1:p.Phe13199Tyr
ENST00000615779.4:c.39596T>A	ENSP00000483597.1:p.Phe13199Tyr
NM_001256850.1:c.39596T>A	NP_001243779.1:p.Phe13199Tyr
NM_001267550.2:c.44519T>A MANE Select	NP_001254479.2:p.Phe14840Tyr
NM_003319.4:c.17324T>A	NP_003310.4:p.Phe5775Tyr
NM_133378.4:c.36815T>A	NP_596869.4:p.Phe12272Tyr
NM_133432.3:c.17699T>A	NP_597676.3:p.Phe5900Tyr
NM_133437.4:c.17900T>A	NP_597681.4:p.Phe5967Tyr
XM_011511729.1:c.43616T>A	XP_011510031.1:p.Phe14539Tyr
XM_011511730.1:c.17510T>A	XP_011510032.1:p.Phe5837Tyr
XM_011511731.1:c.17369T>A	XP_011510033.1:p.Phe5790Tyr
XM_017004819.1:c.43412T>A	XP_016860308.1:p.Phe14471Tyr
XM_017004820.1:c.38810T>A	XP_016860309.1:p.Phe12937Tyr
XM_017004821.1:c.38807T>A	XP_016860310.1:p.Phe12936Tyr
XM_017004822.1:c.35849T>A	XP_016860311.1:p.Phe11950Tyr
XM_017004823.1:c.17465T>A	XP_016860312.1:p.Phe5822Tyr
XM_024453094.1:c.38960T>A	XP_024308862.1:p.Phe12987Tyr
XM_024453095.1:c.38957T>A	XP_024308863.1:p.Phe12986Tyr
XM_024453096.1:c.38390T>A	XP_024308864.1:p.Phe12797Tyr
XM_024453097.1:c.35732T>A	XP_024308865.1:p.Phe11911Tyr
XM_024453098.1:c.35651T>A	XP_024308866.1:p.Phe11884Tyr
XM_024453099.1:c.17414T>A	XP_024308867.1:p.Phe5805Tyr
XM_024453100.1:c.7268T>A	XP_024308868.1:p.Phe2423Tyr