Canonical Allele Identifier: CA349456191

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs772097745
• gnomAD v2: 2-179409059-C-G
• gnomAD v4: 2-178544332-C-G
• COSMIC: COSM350432 ; COSM350433 ; COSM350434
• MyVariant Identifiers: chr2:g.179409059C>G (hg19) ; chr2:g.178544332C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88193G>C (TTN)	ENSP00000343764.6:p.Arg29398Thr
ENST00000342175.11:c.69278G>C (TTN)	ENSP00000340554.6:p.Arg23093Thr
ENST00000359218.10:c.69077G>C (TTN)	ENSP00000352154.5:p.Arg23026Thr
ENST00000342175.10:c.69278G>C (TTN)	ENSP00000340554.6:p.Arg23093Thr
ENST00000342992.10:c.88193G>C (TTN)	ENSP00000343764.6:p.Arg29398Thr
ENST00000359218.9:c.69077G>C (TTN)	ENSP00000352154.5:p.Arg23026Thr
ENST00000460472.6:c.68702G>C (TTN)	ENSP00000434586.1:p.Arg22901Thr
ENST00000589042.5:c.95897G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg31966Thr
ENST00000591111.5:c.90974G>C (TTN)	ENSP00000465570.1:p.Arg30325Thr
ENST00000615779.4:c.90974G>C (TTN)	ENSP00000483597.1:p.Arg30325Thr
NM_001256850.1:c.90974G>C (TTN)	NP_001243779.1:p.Arg30325Thr
NM_001267550.2:c.95897G>C (TTN) MANE Select	NP_001254479.2:p.Arg31966Thr
NM_003319.4:c.68702G>C (TTN)	NP_003310.4:p.Arg22901Thr
NM_133378.4:c.88193G>C (TTN)	NP_596869.4:p.Arg29398Thr
NM_133432.3:c.69077G>C (TTN)	NP_597676.3:p.Arg23026Thr
NM_133437.4:c.69278G>C (TTN)	NP_597681.4:p.Arg23093Thr
NR_038271.1:n.446+20696C>G (TTN-AS1)
NR_038272.1:n.2043+1971C>G (TTN-AS1)
XM_011511729.1:c.94994G>C (TTN)	XP_011510031.1:p.Arg31665Thr
XM_011511730.1:c.68888G>C (TTN)	XP_011510032.1:p.Arg22963Thr
XM_011511731.1:c.68747G>C (TTN)	XP_011510033.1:p.Arg22916Thr
XM_017004819.1:c.94790G>C (TTN)	XP_016860308.1:p.Arg31597Thr
XM_017004820.1:c.90188G>C (TTN)	XP_016860309.1:p.Arg30063Thr
XM_017004821.1:c.90185G>C (TTN)	XP_016860310.1:p.Arg30062Thr
XM_017004822.1:c.87227G>C (TTN)	XP_016860311.1:p.Arg29076Thr
XM_017004823.1:c.68843G>C (TTN)	XP_016860312.1:p.Arg22948Thr
XM_024453094.1:c.90338G>C (TTN)	XP_024308862.1:p.Arg30113Thr
XM_024453095.1:c.90335G>C (TTN)	XP_024308863.1:p.Arg30112Thr
XM_024453096.1:c.89768G>C (TTN)	XP_024308864.1:p.Arg29923Thr
XM_024453097.1:c.87110G>C (TTN)	XP_024308865.1:p.Arg29037Thr
XM_024453098.1:c.87029G>C (TTN)	XP_024308866.1:p.Arg29010Thr
XM_024453099.1:c.68792G>C (TTN)	XP_024308867.1:p.Arg22931Thr
XM_024453100.1:c.58646G>C (TTN)	XP_024308868.1:p.Arg19549Thr