Canonical Allele Identifier: CA349456190

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88193G>T (TTN)	ENSP00000343764.6:p.Arg29398Ile
ENST00000342175.11:c.69278G>T (TTN)	ENSP00000340554.6:p.Arg23093Ile
ENST00000359218.10:c.69077G>T (TTN)	ENSP00000352154.5:p.Arg23026Ile
ENST00000342175.10:c.69278G>T (TTN)	ENSP00000340554.6:p.Arg23093Ile
ENST00000342992.10:c.88193G>T (TTN)	ENSP00000343764.6:p.Arg29398Ile
ENST00000359218.9:c.69077G>T (TTN)	ENSP00000352154.5:p.Arg23026Ile
ENST00000460472.6:c.68702G>T (TTN)	ENSP00000434586.1:p.Arg22901Ile
ENST00000589042.5:c.95897G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg31966Ile
ENST00000591111.5:c.90974G>T (TTN)	ENSP00000465570.1:p.Arg30325Ile
ENST00000615779.4:c.90974G>T (TTN)	ENSP00000483597.1:p.Arg30325Ile
NM_001256850.1:c.90974G>T (TTN)	NP_001243779.1:p.Arg30325Ile
NM_001267550.2:c.95897G>T (TTN) MANE Select	NP_001254479.2:p.Arg31966Ile
NM_003319.4:c.68702G>T (TTN)	NP_003310.4:p.Arg22901Ile
NM_133378.4:c.88193G>T (TTN)	NP_596869.4:p.Arg29398Ile
NM_133432.3:c.69077G>T (TTN)	NP_597676.3:p.Arg23026Ile
NM_133437.4:c.69278G>T (TTN)	NP_597681.4:p.Arg23093Ile
NR_038271.1:n.446+20696C>A (TTN-AS1)
NR_038272.1:n.2043+1971C>A (TTN-AS1)
XM_011511729.1:c.94994G>T (TTN)	XP_011510031.1:p.Arg31665Ile
XM_011511730.1:c.68888G>T (TTN)	XP_011510032.1:p.Arg22963Ile
XM_011511731.1:c.68747G>T (TTN)	XP_011510033.1:p.Arg22916Ile
XM_017004819.1:c.94790G>T (TTN)	XP_016860308.1:p.Arg31597Ile
XM_017004820.1:c.90188G>T (TTN)	XP_016860309.1:p.Arg30063Ile
XM_017004821.1:c.90185G>T (TTN)	XP_016860310.1:p.Arg30062Ile
XM_017004822.1:c.87227G>T (TTN)	XP_016860311.1:p.Arg29076Ile
XM_017004823.1:c.68843G>T (TTN)	XP_016860312.1:p.Arg22948Ile
XM_024453094.1:c.90338G>T (TTN)	XP_024308862.1:p.Arg30113Ile
XM_024453095.1:c.90335G>T (TTN)	XP_024308863.1:p.Arg30112Ile
XM_024453096.1:c.89768G>T (TTN)	XP_024308864.1:p.Arg29923Ile
XM_024453097.1:c.87110G>T (TTN)	XP_024308865.1:p.Arg29037Ile
XM_024453098.1:c.87029G>T (TTN)	XP_024308866.1:p.Arg29010Ile
XM_024453099.1:c.68792G>T (TTN)	XP_024308867.1:p.Arg22931Ile
XM_024453100.1:c.58646G>T (TTN)	XP_024308868.1:p.Arg19549Ile