Canonical Allele Identifier: CA349446107

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543304-C-G
• MyVariant Identifiers: chr2:g.179408031C>G (hg19) ; chr2:g.178543304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543304C>G , CM000664.2:g.178543304C>G	GRCh38
NC_000002.11:g.179408031C>G , CM000664.1:g.179408031C>G	GRCh37
NC_000002.10:g.179116277C>G	NCBI36
NG_011618.3:g.292499G>C , LRG_391:g.292499G>C
NG_051363.1:g.25478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88965G>C (TTN)	ENSP00000343764.6:p.Trp29655Cys
ENST00000342175.11:c.70050G>C (TTN)	ENSP00000340554.6:p.Trp23350Cys
ENST00000359218.10:c.69849G>C (TTN)	ENSP00000352154.5:p.Trp23283Cys
ENST00000342175.10:c.70050G>C (TTN)	ENSP00000340554.6:p.Trp23350Cys
ENST00000342992.10:c.88965G>C (TTN)	ENSP00000343764.6:p.Trp29655Cys
ENST00000359218.9:c.69849G>C (TTN)	ENSP00000352154.5:p.Trp23283Cys
ENST00000460472.6:c.69474G>C (TTN)	ENSP00000434586.1:p.Trp23158Cys
ENST00000589042.5:c.96669G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp32223Cys
ENST00000591111.5:c.91746G>C (TTN)	ENSP00000465570.1:p.Trp30582Cys
ENST00000615779.4:c.91746G>C (TTN)	ENSP00000483597.1:p.Trp30582Cys
NM_001256850.1:c.91746G>C (TTN)	NP_001243779.1:p.Trp30582Cys
NM_001267550.2:c.96669G>C (TTN) MANE Select	NP_001254479.2:p.Trp32223Cys
NM_003319.4:c.69474G>C (TTN)	NP_003310.4:p.Trp23158Cys
NM_133378.4:c.88965G>C (TTN)	NP_596869.4:p.Trp29655Cys
NM_133432.3:c.69849G>C (TTN)	NP_597676.3:p.Trp23283Cys
NM_133437.4:c.70050G>C (TTN)	NP_597681.4:p.Trp23350Cys
NR_038271.1:n.446+19668C>G (TTN-AS1)
NR_038272.1:n.2043+943C>G (TTN-AS1)
XM_011511729.1:c.95766G>C (TTN)	XP_011510031.1:p.Trp31922Cys
XM_011511730.1:c.69660G>C (TTN)	XP_011510032.1:p.Trp23220Cys
XM_011511731.1:c.69519G>C (TTN)	XP_011510033.1:p.Trp23173Cys
XM_017004819.1:c.95562G>C (TTN)	XP_016860308.1:p.Trp31854Cys
XM_017004820.1:c.90960G>C (TTN)	XP_016860309.1:p.Trp30320Cys
XM_017004821.1:c.90957G>C (TTN)	XP_016860310.1:p.Trp30319Cys
XM_017004822.1:c.87999G>C (TTN)	XP_016860311.1:p.Trp29333Cys
XM_017004823.1:c.69615G>C (TTN)	XP_016860312.1:p.Trp23205Cys
XM_024453094.1:c.91110G>C (TTN)	XP_024308862.1:p.Trp30370Cys
XM_024453095.1:c.91107G>C (TTN)	XP_024308863.1:p.Trp30369Cys
XM_024453096.1:c.90540G>C (TTN)	XP_024308864.1:p.Trp30180Cys
XM_024453097.1:c.87882G>C (TTN)	XP_024308865.1:p.Trp29294Cys
XM_024453098.1:c.87801G>C (TTN)	XP_024308866.1:p.Trp29267Cys
XM_024453099.1:c.69564G>C (TTN)	XP_024308867.1:p.Trp23188Cys
XM_024453100.1:c.59418G>C (TTN)	XP_024308868.1:p.Trp19806Cys