Canonical Allele Identifier: CA141413

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47580
• ClinVar RCV Id: RCV000040849
• dbSNP Id: rs397517766
• ExAC: 2:179407470 T / C
• gnomAD v2: 2-179407470-T-C
• gnomAD v3: 2-178542743-T-C
• gnomAD v4: 2-178542743-T-C
• MyVariant Identifiers: chr2:g.179407470T>C (hg19) ; chr2:g.178542743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178542743T>C , CM000664.2:g.178542743T>C	GRCh38
NC_000002.11:g.179407470T>C , CM000664.1:g.179407470T>C	GRCh37
NC_000002.10:g.179115716T>C	NCBI36
NG_011618.3:g.293060A>G , LRG_391:g.293060A>G
NG_051363.1:g.24917T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.89407A>G (TTN)	ENSP00000343764.6:p.Ile29803Val
ENST00000342175.11:c.70492A>G (TTN)	ENSP00000340554.6:p.Ile23498Val
ENST00000359218.10:c.70291A>G (TTN)	ENSP00000352154.5:p.Ile23431Val
ENST00000342175.10:c.70492A>G (TTN)	ENSP00000340554.6:p.Ile23498Val
ENST00000342992.10:c.89407A>G (TTN)	ENSP00000343764.6:p.Ile29803Val
ENST00000359218.9:c.70291A>G (TTN)	ENSP00000352154.5:p.Ile23431Val
ENST00000460472.6:c.69916A>G (TTN)	ENSP00000434586.1:p.Ile23306Val
ENST00000589042.5:c.97111A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile32371Val
ENST00000591111.5:c.92188A>G (TTN)	ENSP00000465570.1:p.Ile30730Val
ENST00000615779.4:c.92188A>G (TTN)	ENSP00000483597.1:p.Ile30730Val
NM_001256850.1:c.92188A>G (TTN)	NP_001243779.1:p.Ile30730Val
NM_001267550.2:c.97111A>G (TTN) MANE Select	NP_001254479.2:p.Ile32371Val
NM_003319.4:c.69916A>G (TTN)	NP_003310.4:p.Ile23306Val
NM_133378.4:c.89407A>G (TTN)	NP_596869.4:p.Ile29803Val
NM_133432.3:c.70291A>G (TTN)	NP_597676.3:p.Ile23431Val
NM_133437.4:c.70492A>G (TTN)	NP_597681.4:p.Ile23498Val
NR_038271.1:n.446+19107T>C (TTN-AS1)
NR_038272.1:n.2043+382T>C (TTN-AS1)
XM_011511729.1:c.96208A>G (TTN)	XP_011510031.1:p.Ile32070Val
XM_011511730.1:c.70102A>G (TTN)	XP_011510032.1:p.Ile23368Val
XM_011511731.1:c.69961A>G (TTN)	XP_011510033.1:p.Ile23321Val
XM_017004819.1:c.96004A>G (TTN)	XP_016860308.1:p.Ile32002Val
XM_017004820.1:c.91402A>G (TTN)	XP_016860309.1:p.Ile30468Val
XM_017004821.1:c.91399A>G (TTN)	XP_016860310.1:p.Ile30467Val
XM_017004822.1:c.88441A>G (TTN)	XP_016860311.1:p.Ile29481Val
XM_017004823.1:c.70057A>G (TTN)	XP_016860312.1:p.Ile23353Val
XM_024453094.1:c.91552A>G (TTN)	XP_024308862.1:p.Ile30518Val
XM_024453095.1:c.91549A>G (TTN)	XP_024308863.1:p.Ile30517Val
XM_024453096.1:c.90982A>G (TTN)	XP_024308864.1:p.Ile30328Val
XM_024453097.1:c.88324A>G (TTN)	XP_024308865.1:p.Ile29442Val
XM_024453098.1:c.88243A>G (TTN)	XP_024308866.1:p.Ile29415Val
XM_024453099.1:c.70006A>G (TTN)	XP_024308867.1:p.Ile23336Val
XM_024453100.1:c.59860A>G (TTN)	XP_024308868.1:p.Ile19954Val