Canonical Allele Identifier: CA1993009

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 283262
• ClinVar RCV Id: RCV000405709
• dbSNP Id: rs779279322
• ExAC: 2:179460410 C / T
• gnomAD v2: 2-179460410-C-T
• gnomAD v3: 2-178595683-C-T
• gnomAD v4: 2-178595683-C-T
• MyVariant Identifiers: chr2:g.179460410C>T (hg19) ; chr2:g.178595683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178595683C>T , CM000664.2:g.178595683C>T	GRCh38
NC_000002.11:g.179460410C>T , CM000664.1:g.179460410C>T	GRCh37
NC_000002.10:g.179168656C>T	NCBI36
NG_011618.3:g.240120G>A , LRG_391:g.240120G>A
NG_051363.1:g.77857C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49967G>A (TTN)	ENSP00000343764.6:p.Arg16656His
ENST00000342175.11:c.31052G>A (TTN)	ENSP00000340554.6:p.Arg10351His
ENST00000359218.10:c.30851G>A (TTN)	ENSP00000352154.5:p.Arg10284His
ENST00000342175.10:c.31052G>A (TTN)	ENSP00000340554.6:p.Arg10351His
ENST00000342992.10:c.49967G>A (TTN)	ENSP00000343764.6:p.Arg16656His
ENST00000359218.9:c.30851G>A (TTN)	ENSP00000352154.5:p.Arg10284His
ENST00000460472.6:c.30476G>A (TTN)	ENSP00000434586.1:p.Arg10159His
ENST00000589042.5:c.57671G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg19224His
ENST00000591111.5:c.52748G>A (TTN)	ENSP00000465570.1:p.Arg17583His
ENST00000615779.4:c.52748G>A (TTN)	ENSP00000483597.1:p.Arg17583His
NM_001256850.1:c.52748G>A (TTN)	NP_001243779.1:p.Arg17583His
NM_001267550.2:c.57671G>A (TTN) MANE Select	NP_001254479.2:p.Arg19224His
NM_003319.4:c.30476G>A (TTN)	NP_003310.4:p.Arg10159His
NM_133378.4:c.49967G>A (TTN)	NP_596869.4:p.Arg16656His
NM_133432.3:c.30851G>A (TTN)	NP_597676.3:p.Arg10284His
NM_133437.4:c.31052G>A (TTN)	NP_597681.4:p.Arg10351His
NR_038271.1:n.597-1913C>T (TTN-AS1)
NR_038272.1:n.3365-1913C>T (TTN-AS1)
XM_011511729.1:c.56768G>A (TTN)	XP_011510031.1:p.Arg18923His
XM_011511730.1:c.30662G>A (TTN)	XP_011510032.1:p.Arg10221His
XM_011511731.1:c.30521G>A (TTN)	XP_011510033.1:p.Arg10174His
XM_017004819.1:c.56564G>A (TTN)	XP_016860308.1:p.Arg18855His
XM_017004820.1:c.51962G>A (TTN)	XP_016860309.1:p.Arg17321His
XM_017004821.1:c.51959G>A (TTN)	XP_016860310.1:p.Arg17320His
XM_017004822.1:c.49001G>A (TTN)	XP_016860311.1:p.Arg16334His
XM_017004823.1:c.30617G>A (TTN)	XP_016860312.1:p.Arg10206His
XM_024453094.1:c.52112G>A (TTN)	XP_024308862.1:p.Arg17371His
XM_024453095.1:c.52109G>A (TTN)	XP_024308863.1:p.Arg17370His
XM_024453096.1:c.51542G>A (TTN)	XP_024308864.1:p.Arg17181His
XM_024453097.1:c.48884G>A (TTN)	XP_024308865.1:p.Arg16295His
XM_024453098.1:c.48803G>A (TTN)	XP_024308866.1:p.Arg16268His
XM_024453099.1:c.30566G>A (TTN)	XP_024308867.1:p.Arg10189His
XM_024453100.1:c.20420G>A (TTN)	XP_024308868.1:p.Arg6807His