Canonical Allele Identifier: CA430241817

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2937216
• ClinVar RCV Id: RCV003791406 ; RCV004366610
• MyVariant Identifiers: chr2:g.179409082T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544355T>C , CM000664.2:g.178544355T>C	GRCh38
NC_000002.11:g.179409082T>C , CM000664.1:g.179409082T>C	GRCh37
NC_000002.10:g.179117328T>C	NCBI36
NG_011618.3:g.291448A>G , LRG_391:g.291448A>G
NG_051363.1:g.26529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88170A>G (TTN)	ENSP00000343764.6:p.Arg29390=
ENST00000342175.11:c.69255A>G (TTN)	ENSP00000340554.6:p.Arg23085=
ENST00000359218.10:c.69054A>G (TTN)	ENSP00000352154.5:p.Arg23018=
ENST00000342175.10:c.69255A>G (TTN)	ENSP00000340554.6:p.Arg23085=
ENST00000342992.10:c.88170A>G (TTN)	ENSP00000343764.6:p.Arg29390=
ENST00000359218.9:c.69054A>G (TTN)	ENSP00000352154.5:p.Arg23018=
ENST00000460472.6:c.68679A>G (TTN)	ENSP00000434586.1:p.Arg22893=
ENST00000589042.5:c.95874A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg31958=
ENST00000591111.5:c.90951A>G (TTN)	ENSP00000465570.1:p.Arg30317=
ENST00000615779.4:c.90951A>G (TTN)	ENSP00000483597.1:p.Arg30317=
NM_001256850.1:c.90951A>G (TTN)	NP_001243779.1:p.Arg30317=
NM_001267550.2:c.95874A>G (TTN) MANE Select	NP_001254479.2:p.Arg31958=
NM_003319.4:c.68679A>G (TTN)	NP_003310.4:p.Arg22893=
NM_133378.4:c.88170A>G (TTN)	NP_596869.4:p.Arg29390=
NM_133432.3:c.69054A>G (TTN)	NP_597676.3:p.Arg23018=
NM_133437.4:c.69255A>G (TTN)	NP_597681.4:p.Arg23085=
NR_038271.1:n.446+20719T>C (TTN-AS1)
NR_038272.1:n.2043+1994T>C (TTN-AS1)
XM_011511729.1:c.94971A>G (TTN)	XP_011510031.1:p.Arg31657=
XM_011511730.1:c.68865A>G (TTN)	XP_011510032.1:p.Arg22955=
XM_011511731.1:c.68724A>G (TTN)	XP_011510033.1:p.Arg22908=
XM_017004819.1:c.94767A>G (TTN)	XP_016860308.1:p.Arg31589=
XM_017004820.1:c.90165A>G (TTN)	XP_016860309.1:p.Arg30055=
XM_017004821.1:c.90162A>G (TTN)	XP_016860310.1:p.Arg30054=
XM_017004822.1:c.87204A>G (TTN)	XP_016860311.1:p.Arg29068=
XM_017004823.1:c.68820A>G (TTN)	XP_016860312.1:p.Arg22940=
XM_024453094.1:c.90315A>G (TTN)	XP_024308862.1:p.Arg30105=
XM_024453095.1:c.90312A>G (TTN)	XP_024308863.1:p.Arg30104=
XM_024453096.1:c.89745A>G (TTN)	XP_024308864.1:p.Arg29915=
XM_024453097.1:c.87087A>G (TTN)	XP_024308865.1:p.Arg29029=
XM_024453098.1:c.87006A>G (TTN)	XP_024308866.1:p.Arg29002=
XM_024453099.1:c.68769A>G (TTN)	XP_024308867.1:p.Arg22923=
XM_024453100.1:c.58623A>G (TTN)	XP_024308868.1:p.Arg19541=