Canonical Allele Identifier: CA349488763

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535226
• ClinVar RCV Id: RCV000643077
• dbSNP Id: rs1553645773
• gnomAD v4: 2-178591988-C-G
• MyVariant Identifiers: chr2:g.179456715C>G (hg19) ; chr2:g.178591988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591988C>G , CM000664.2:g.178591988C>G	GRCh38
NC_000002.11:g.179456715C>G , CM000664.1:g.179456715C>G	GRCh37
NC_000002.10:g.179164961C>G	NCBI36
NG_011618.3:g.243815G>C , LRG_391:g.243815G>C
NG_051363.1:g.74162C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52212G>C (TTN)	ENSP00000343764.6:p.Leu17404Phe
ENST00000342175.11:c.33297G>C (TTN)	ENSP00000340554.6:p.Leu11099Phe
ENST00000359218.10:c.33096G>C (TTN)	ENSP00000352154.5:p.Leu11032Phe
ENST00000342175.10:c.33297G>C (TTN)	ENSP00000340554.6:p.Leu11099Phe
ENST00000342992.10:c.52212G>C (TTN)	ENSP00000343764.6:p.Leu17404Phe
ENST00000359218.9:c.33096G>C (TTN)	ENSP00000352154.5:p.Leu11032Phe
ENST00000460472.6:c.32721G>C (TTN)	ENSP00000434586.1:p.Leu10907Phe
ENST00000589042.5:c.59916G>C (TTN) MANE Select	ENSP00000467141.1:p.Leu19972Phe
ENST00000591111.5:c.54993G>C (TTN)	ENSP00000465570.1:p.Leu18331Phe
ENST00000615779.4:c.54993G>C (TTN)	ENSP00000483597.1:p.Leu18331Phe
NM_001256850.1:c.54993G>C (TTN)	NP_001243779.1:p.Leu18331Phe
NM_001267550.2:c.59916G>C (TTN) MANE Select	NP_001254479.2:p.Leu19972Phe
NM_003319.4:c.32721G>C (TTN)	NP_003310.4:p.Leu10907Phe
NM_133378.4:c.52212G>C (TTN)	NP_596869.4:p.Leu17404Phe
NM_133432.3:c.33096G>C (TTN)	NP_597676.3:p.Leu11032Phe
NM_133437.4:c.33297G>C (TTN)	NP_597681.4:p.Leu11099Phe
NR_038271.1:n.597-5608C>G (TTN-AS1)
NR_038272.1:n.3364+674C>G (TTN-AS1)
XM_011511729.1:c.59013G>C (TTN)	XP_011510031.1:p.Leu19671Phe
XM_011511730.1:c.32907G>C (TTN)	XP_011510032.1:p.Leu10969Phe
XM_011511731.1:c.32766G>C (TTN)	XP_011510033.1:p.Leu10922Phe
XM_017004819.1:c.58809G>C (TTN)	XP_016860308.1:p.Leu19603Phe
XM_017004820.1:c.54207G>C (TTN)	XP_016860309.1:p.Leu18069Phe
XM_017004821.1:c.54204G>C (TTN)	XP_016860310.1:p.Leu18068Phe
XM_017004822.1:c.51246G>C (TTN)	XP_016860311.1:p.Leu17082Phe
XM_017004823.1:c.32862G>C (TTN)	XP_016860312.1:p.Leu10954Phe
XM_024453094.1:c.54357G>C (TTN)	XP_024308862.1:p.Leu18119Phe
XM_024453095.1:c.54354G>C (TTN)	XP_024308863.1:p.Leu18118Phe
XM_024453096.1:c.53787G>C (TTN)	XP_024308864.1:p.Leu17929Phe
XM_024453097.1:c.51129G>C (TTN)	XP_024308865.1:p.Leu17043Phe
XM_024453098.1:c.51048G>C (TTN)	XP_024308866.1:p.Leu17016Phe
XM_024453099.1:c.32811G>C (TTN)	XP_024308867.1:p.Leu10937Phe
XM_024453100.1:c.22665G>C (TTN)	XP_024308868.1:p.Leu7555Phe