Canonical Allele Identifier: CA1986856

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs772097745
• ExAC: 2:179409059 C / T
• gnomAD v2: 2-179409059-C-T
• gnomAD v4: 2-178544332-C-T
• MyVariant Identifiers: chr2:g.179409059C>T (hg19) ; chr2:g.178544332C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544332C>T , CM000664.2:g.178544332C>T	GRCh38
NC_000002.11:g.179409059C>T , CM000664.1:g.179409059C>T	GRCh37
NC_000002.10:g.179117305C>T	NCBI36
NG_011618.3:g.291471G>A , LRG_391:g.291471G>A
NG_051363.1:g.26506C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88193G>A (TTN)	ENSP00000343764.6:p.Arg29398Lys
ENST00000342175.11:c.69278G>A (TTN)	ENSP00000340554.6:p.Arg23093Lys
ENST00000359218.10:c.69077G>A (TTN)	ENSP00000352154.5:p.Arg23026Lys
ENST00000342175.10:c.69278G>A (TTN)	ENSP00000340554.6:p.Arg23093Lys
ENST00000342992.10:c.88193G>A (TTN)	ENSP00000343764.6:p.Arg29398Lys
ENST00000359218.9:c.69077G>A (TTN)	ENSP00000352154.5:p.Arg23026Lys
ENST00000460472.6:c.68702G>A (TTN)	ENSP00000434586.1:p.Arg22901Lys
ENST00000589042.5:c.95897G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg31966Lys
ENST00000591111.5:c.90974G>A (TTN)	ENSP00000465570.1:p.Arg30325Lys
ENST00000615779.4:c.90974G>A (TTN)	ENSP00000483597.1:p.Arg30325Lys
NM_001256850.1:c.90974G>A (TTN)	NP_001243779.1:p.Arg30325Lys
NM_001267550.2:c.95897G>A (TTN) MANE Select	NP_001254479.2:p.Arg31966Lys
NM_003319.4:c.68702G>A (TTN)	NP_003310.4:p.Arg22901Lys
NM_133378.4:c.88193G>A (TTN)	NP_596869.4:p.Arg29398Lys
NM_133432.3:c.69077G>A (TTN)	NP_597676.3:p.Arg23026Lys
NM_133437.4:c.69278G>A (TTN)	NP_597681.4:p.Arg23093Lys
NR_038271.1:n.446+20696C>T (TTN-AS1)
NR_038272.1:n.2043+1971C>T (TTN-AS1)
XM_011511729.1:c.94994G>A (TTN)	XP_011510031.1:p.Arg31665Lys
XM_011511730.1:c.68888G>A (TTN)	XP_011510032.1:p.Arg22963Lys
XM_011511731.1:c.68747G>A (TTN)	XP_011510033.1:p.Arg22916Lys
XM_017004819.1:c.94790G>A (TTN)	XP_016860308.1:p.Arg31597Lys
XM_017004820.1:c.90188G>A (TTN)	XP_016860309.1:p.Arg30063Lys
XM_017004821.1:c.90185G>A (TTN)	XP_016860310.1:p.Arg30062Lys
XM_017004822.1:c.87227G>A (TTN)	XP_016860311.1:p.Arg29076Lys
XM_017004823.1:c.68843G>A (TTN)	XP_016860312.1:p.Arg22948Lys
XM_024453094.1:c.90338G>A (TTN)	XP_024308862.1:p.Arg30113Lys
XM_024453095.1:c.90335G>A (TTN)	XP_024308863.1:p.Arg30112Lys
XM_024453096.1:c.89768G>A (TTN)	XP_024308864.1:p.Arg29923Lys
XM_024453097.1:c.87110G>A (TTN)	XP_024308865.1:p.Arg29037Lys
XM_024453098.1:c.87029G>A (TTN)	XP_024308866.1:p.Arg29010Lys
XM_024453099.1:c.68792G>A (TTN)	XP_024308867.1:p.Arg22931Lys
XM_024453100.1:c.58646G>A (TTN)	XP_024308868.1:p.Arg19549Lys