Canonical Allele Identifier: CA349527671

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 518944
• ClinVar RCV Id: RCV000617567 ; RCV000642747
• dbSNP Id: rs1553547657
• MyVariant Identifiers: chr2:g.179419764C>T (hg19) ; chr2:g.178555037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178555037C>T , CM000664.2:g.178555037C>T	GRCh38
NC_000002.11:g.179419764C>T , CM000664.1:g.179419764C>T	GRCh37
NC_000002.10:g.179128010C>T	NCBI36
NG_011618.3:g.280766G>A , LRG_391:g.280766G>A
NG_051363.1:g.37211C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.80718G>A (TTN)	ENSP00000343764.6:p.Trp26906Ter
ENST00000342175.11:c.61803G>A (TTN)	ENSP00000340554.6:p.Trp20601Ter
ENST00000359218.10:c.61602G>A (TTN)	ENSP00000352154.5:p.Trp20534Ter
ENST00000342175.10:c.61803G>A (TTN)	ENSP00000340554.6:p.Trp20601Ter
ENST00000342992.10:c.80718G>A (TTN)	ENSP00000343764.6:p.Trp26906Ter
ENST00000359218.9:c.61602G>A (TTN)	ENSP00000352154.5:p.Trp20534Ter
ENST00000460472.6:c.61227G>A (TTN)	ENSP00000434586.1:p.Trp20409Ter
ENST00000589042.5:c.88422G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp29474Ter
ENST00000591111.5:c.83499G>A (TTN)	ENSP00000465570.1:p.Trp27833Ter
ENST00000615779.4:c.83499G>A (TTN)	ENSP00000483597.1:p.Trp27833Ter
NM_001256850.1:c.83499G>A (TTN)	NP_001243779.1:p.Trp27833Ter
NM_001267550.2:c.88422G>A (TTN) MANE Select	NP_001254479.2:p.Trp29474Ter
NM_003319.4:c.61227G>A (TTN)	NP_003310.4:p.Trp20409Ter
NM_133378.4:c.80718G>A (TTN)	NP_596869.4:p.Trp26906Ter
NM_133432.3:c.61602G>A (TTN)	NP_597676.3:p.Trp20534Ter
NM_133437.4:c.61803G>A (TTN)	NP_597681.4:p.Trp20601Ter
NR_038271.1:n.447-16263C>T (TTN-AS1)
NR_038272.1:n.2043+12676C>T (TTN-AS1)
XM_011511729.1:c.87519G>A (TTN)	XP_011510031.1:p.Trp29173Ter
XM_011511730.1:c.61413G>A (TTN)	XP_011510032.1:p.Trp20471Ter
XM_011511731.1:c.61272G>A (TTN)	XP_011510033.1:p.Trp20424Ter
XM_017004819.1:c.87315G>A (TTN)	XP_016860308.1:p.Trp29105Ter
XM_017004820.1:c.82713G>A (TTN)	XP_016860309.1:p.Trp27571Ter
XM_017004821.1:c.82710G>A (TTN)	XP_016860310.1:p.Trp27570Ter
XM_017004822.1:c.79752G>A (TTN)	XP_016860311.1:p.Trp26584Ter
XM_017004823.1:c.61368G>A (TTN)	XP_016860312.1:p.Trp20456Ter
XM_024453094.1:c.82863G>A (TTN)	XP_024308862.1:p.Trp27621Ter
XM_024453095.1:c.82860G>A (TTN)	XP_024308863.1:p.Trp27620Ter
XM_024453096.1:c.82293G>A (TTN)	XP_024308864.1:p.Trp27431Ter
XM_024453097.1:c.79635G>A (TTN)	XP_024308865.1:p.Trp26545Ter
XM_024453098.1:c.79554G>A (TTN)	XP_024308866.1:p.Trp26518Ter
XM_024453099.1:c.61317G>A (TTN)	XP_024308867.1:p.Trp20439Ter
XM_024453100.1:c.51171G>A (TTN)	XP_024308868.1:p.Trp17057Ter