Canonical Allele Identifier: CA349445821

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543264-A-G
• MyVariant Identifiers: chr2:g.179407991A>G (hg19) ; chr2:g.178543264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543264A>G , CM000664.2:g.178543264A>G	GRCh38
NC_000002.11:g.179407991A>G , CM000664.1:g.179407991A>G	GRCh37
NC_000002.10:g.179116237A>G	NCBI36
NG_011618.3:g.292539T>C , LRG_391:g.292539T>C
NG_051363.1:g.25438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89005T>C (TTN)	ENSP00000343764.6:p.Tyr29669His
ENST00000342175.11:c.70090T>C (TTN)	ENSP00000340554.6:p.Tyr23364His
ENST00000359218.10:c.69889T>C (TTN)	ENSP00000352154.5:p.Tyr23297His
ENST00000342175.10:c.70090T>C (TTN)	ENSP00000340554.6:p.Tyr23364His
ENST00000342992.10:c.89005T>C (TTN)	ENSP00000343764.6:p.Tyr29669His
ENST00000359218.9:c.69889T>C (TTN)	ENSP00000352154.5:p.Tyr23297His
ENST00000460472.6:c.69514T>C (TTN)	ENSP00000434586.1:p.Tyr23172His
ENST00000589042.5:c.96709T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr32237His
ENST00000591111.5:c.91786T>C (TTN)	ENSP00000465570.1:p.Tyr30596His
ENST00000615779.4:c.91786T>C (TTN)	ENSP00000483597.1:p.Tyr30596His
NM_001256850.1:c.91786T>C (TTN)	NP_001243779.1:p.Tyr30596His
NM_001267550.2:c.96709T>C (TTN) MANE Select	NP_001254479.2:p.Tyr32237His
NM_003319.4:c.69514T>C (TTN)	NP_003310.4:p.Tyr23172His
NM_133378.4:c.89005T>C (TTN)	NP_596869.4:p.Tyr29669His
NM_133432.3:c.69889T>C (TTN)	NP_597676.3:p.Tyr23297His
NM_133437.4:c.70090T>C (TTN)	NP_597681.4:p.Tyr23364His
NR_038271.1:n.446+19628A>G (TTN-AS1)
NR_038272.1:n.2043+903A>G (TTN-AS1)
XM_011511729.1:c.95806T>C (TTN)	XP_011510031.1:p.Tyr31936His
XM_011511730.1:c.69700T>C (TTN)	XP_011510032.1:p.Tyr23234His
XM_011511731.1:c.69559T>C (TTN)	XP_011510033.1:p.Tyr23187His
XM_017004819.1:c.95602T>C (TTN)	XP_016860308.1:p.Tyr31868His
XM_017004820.1:c.91000T>C (TTN)	XP_016860309.1:p.Tyr30334His
XM_017004821.1:c.90997T>C (TTN)	XP_016860310.1:p.Tyr30333His
XM_017004822.1:c.88039T>C (TTN)	XP_016860311.1:p.Tyr29347His
XM_017004823.1:c.69655T>C (TTN)	XP_016860312.1:p.Tyr23219His
XM_024453094.1:c.91150T>C (TTN)	XP_024308862.1:p.Tyr30384His
XM_024453095.1:c.91147T>C (TTN)	XP_024308863.1:p.Tyr30383His
XM_024453096.1:c.90580T>C (TTN)	XP_024308864.1:p.Tyr30194His
XM_024453097.1:c.87922T>C (TTN)	XP_024308865.1:p.Tyr29308His
XM_024453098.1:c.87841T>C (TTN)	XP_024308866.1:p.Tyr29281His
XM_024453099.1:c.69604T>C (TTN)	XP_024308867.1:p.Tyr23202His
XM_024453100.1:c.59458T>C (TTN)	XP_024308868.1:p.Tyr19820His