Canonical Allele Identifier: CA240385

Gene: TTN

Linked Data

• ClinVar Variation Id: 194436
• ClinVar RCV Id: RCV000174803 ; RCV003765086
• dbSNP Id: rs727505277
• gnomAD v4: 2-178786081-G-T
• MyVariant Identifiers: chr2:g.179650808G>T (hg19) ; chr2:g.178786081G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178786081G>T , CM000664.2:g.178786081G>T	GRCh38
NC_000002.11:g.179650808G>T , CM000664.1:g.179650808G>T	GRCh37
NC_000002.10:g.179359053G>T	NCBI36
NG_011618.3:g.49722C>A , LRG_391:g.49722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.2137C>A	ENSP00000343764.6:p.Arg713=
ENST00000342175.11:c.1999C>A	ENSP00000340554.6:p.Arg667=
ENST00000359218.10:c.1999C>A	ENSP00000352154.5:p.Arg667=
ENST00000360870.10:c.2137C>A MANE Plus Clinical	ENSP00000354117.4:p.Arg713=
ENST00000342175.10:c.1999C>A	ENSP00000340554.6:p.Arg667=
ENST00000342992.10:c.2137C>A	ENSP00000343764.6:p.Arg713=
ENST00000359218.9:c.1999C>A	ENSP00000352154.5:p.Arg667=
ENST00000360870.9:c.2137C>A	ENSP00000354117.4:p.Arg713=
ENST00000460472.6:c.1999C>A	ENSP00000434586.1:p.Arg667=
ENST00000589042.5:c.2137C>A MANE Select	ENSP00000467141.1:p.Arg713=
ENST00000591111.5:c.2137C>A	ENSP00000465570.1:p.Arg713=
ENST00000615779.4:c.2137C>A	ENSP00000483597.1:p.Arg713=
NM_001256850.1:c.2137C>A	NP_001243779.1:p.Arg713=
NM_001267550.2:c.2137C>A MANE Select	NP_001254479.2:p.Arg713=
NM_003319.4:c.1999C>A	NP_003310.4:p.Arg667=
NM_133378.4:c.2137C>A	NP_596869.4:p.Arg713=
NM_133379.4:c.2137C>A , LRG_391t2:c.2137C>A	NP_596870.2:p.Arg713=
NM_133432.3:c.1999C>A	NP_597676.3:p.Arg667=
NM_133437.4:c.1999C>A	NP_597681.4:p.Arg667=
XM_011511729.1:c.2185C>A	XP_011510031.1:p.Arg729=
XM_011511730.1:c.2185C>A	XP_011510032.1:p.Arg729=
XM_011511731.1:c.2044C>A	XP_011510033.1:p.Arg682=
XM_011511732.1:c.2182C>A	XP_011510034.1:p.Arg728=
XM_017004819.1:c.2140C>A	XP_016860308.1:p.Arg714=
XM_017004820.1:c.2140C>A	XP_016860309.1:p.Arg714=
XM_017004821.1:c.2137C>A	XP_016860310.1:p.Arg713=
XM_017004822.1:c.2140C>A	XP_016860311.1:p.Arg714=
XM_017004823.1:c.2140C>A	XP_016860312.1:p.Arg714=
XM_024453094.1:c.2140C>A	XP_024308862.1:p.Arg714=
XM_024453095.1:c.2140C>A	XP_024308863.1:p.Arg714=
XM_024453096.1:c.2140C>A	XP_024308864.1:p.Arg714=
XM_024453097.1:c.2140C>A	XP_024308865.1:p.Arg714=
XM_024453098.1:c.2140C>A	XP_024308866.1:p.Arg714=
XM_024453099.1:c.2140C>A	XP_024308867.1:p.Arg714=
NM_133379.5:c.2137C>A MANE Plus Clinical	NP_596870.2:p.Arg713=