Canonical Allele Identifier: CA349411773

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1006463
• ClinVar RCV Id: RCV001303508
• dbSNP Id: rs973111888
• gnomAD v4: 2-178532195-C-T
• MyVariant Identifiers: chr2:g.179396922C>T (hg19) ; chr2:g.178532195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532195C>T , CM000664.2:g.178532195C>T	GRCh38
NC_000002.11:g.179396922C>T , CM000664.1:g.179396922C>T	GRCh37
NC_000002.10:g.179105168C>T	NCBI36
NG_011618.3:g.303608G>A , LRG_391:g.303608G>A
NG_051363.1:g.14369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96716G>A (TTN)	ENSP00000343764.6:p.Arg32239Lys
ENST00000342175.11:c.77801G>A (TTN)	ENSP00000340554.6:p.Arg25934Lys
ENST00000359218.10:c.77600G>A (TTN)	ENSP00000352154.5:p.Arg25867Lys
ENST00000342175.10:c.77801G>A (TTN)	ENSP00000340554.6:p.Arg25934Lys
ENST00000342992.10:c.96716G>A (TTN)	ENSP00000343764.6:p.Arg32239Lys
ENST00000359218.9:c.77600G>A (TTN)	ENSP00000352154.5:p.Arg25867Lys
ENST00000460472.6:c.77225G>A (TTN)	ENSP00000434586.1:p.Arg25742Lys
ENST00000589042.5:c.104420G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg34807Lys
ENST00000591111.5:c.99497G>A (TTN)	ENSP00000465570.1:p.Arg33166Lys
ENST00000615779.4:c.99497G>A (TTN)	ENSP00000483597.1:p.Arg33166Lys
NM_001256850.1:c.99497G>A (TTN)	NP_001243779.1:p.Arg33166Lys
NM_001267550.2:c.104420G>A (TTN) MANE Select	NP_001254479.2:p.Arg34807Lys
NM_003319.4:c.77225G>A (TTN)	NP_003310.4:p.Arg25742Lys
NM_133378.4:c.96716G>A (TTN)	NP_596869.4:p.Arg32239Lys
NM_133432.3:c.77600G>A (TTN)	NP_597676.3:p.Arg25867Lys
NM_133437.4:c.77801G>A (TTN)	NP_597681.4:p.Arg25934Lys
NR_038271.1:n.446+8559C>T (TTN-AS1)
NR_038272.1:n.220-3537C>T (TTN-AS1)
XM_011511729.1:c.103517G>A (TTN)	XP_011510031.1:p.Arg34506Lys
XM_011511730.1:c.77411G>A (TTN)	XP_011510032.1:p.Arg25804Lys
XM_011511731.1:c.77270G>A (TTN)	XP_011510033.1:p.Arg25757Lys
XM_017004819.1:c.103313G>A (TTN)	XP_016860308.1:p.Arg34438Lys
XM_017004820.1:c.98711G>A (TTN)	XP_016860309.1:p.Arg32904Lys
XM_017004821.1:c.98708G>A (TTN)	XP_016860310.1:p.Arg32903Lys
XM_017004822.1:c.95750G>A (TTN)	XP_016860311.1:p.Arg31917Lys
XM_017004823.1:c.77366G>A (TTN)	XP_016860312.1:p.Arg25789Lys
XM_024453094.1:c.98861G>A (TTN)	XP_024308862.1:p.Arg32954Lys
XM_024453095.1:c.98858G>A (TTN)	XP_024308863.1:p.Arg32953Lys
XM_024453096.1:c.98291G>A (TTN)	XP_024308864.1:p.Arg32764Lys
XM_024453097.1:c.95633G>A (TTN)	XP_024308865.1:p.Arg31878Lys
XM_024453098.1:c.95552G>A (TTN)	XP_024308866.1:p.Arg31851Lys
XM_024453099.1:c.77315G>A (TTN)	XP_024308867.1:p.Arg25772Lys
XM_024453100.1:c.67169G>A (TTN)	XP_024308868.1:p.Arg22390Lys