Canonical Allele Identifier: CA430105217

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2017262
• ClinVar RCV Id: RCV002835115
• MyVariant Identifiers: chr2:g.179480093T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178615366T>C , CM000664.2:g.178615366T>C	GRCh38
NC_000002.11:g.179480093T>C , CM000664.1:g.179480093T>C	GRCh37
NC_000002.10:g.179188338T>C	NCBI36
NG_011618.3:g.220437A>G , LRG_391:g.220437A>G
NG_051363.1:g.97540T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.40875A>G (TTN)	ENSP00000343764.6:p.Glu13625=
ENST00000342175.11:c.21960A>G (TTN)	ENSP00000340554.6:p.Glu7320=
ENST00000359218.10:c.21759A>G (TTN)	ENSP00000352154.5:p.Glu7253=
ENST00000342175.10:c.21960A>G (TTN)	ENSP00000340554.6:p.Glu7320=
ENST00000342992.10:c.40875A>G (TTN)	ENSP00000343764.6:p.Glu13625=
ENST00000359218.9:c.21759A>G (TTN)	ENSP00000352154.5:p.Glu7253=
ENST00000460472.6:c.21384A>G (TTN)	ENSP00000434586.1:p.Glu7128=
ENST00000589042.5:c.48579A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu16193=
ENST00000591111.5:c.43656A>G (TTN)	ENSP00000465570.1:p.Glu14552=
ENST00000615779.4:c.43656A>G (TTN)	ENSP00000483597.1:p.Glu14552=
NM_001256850.1:c.43656A>G (TTN)	NP_001243779.1:p.Glu14552=
NM_001267550.2:c.48579A>G (TTN) MANE Select	NP_001254479.2:p.Glu16193=
NM_003319.4:c.21384A>G (TTN)	NP_003310.4:p.Glu7128=
NM_133378.4:c.40875A>G (TTN)	NP_596869.4:p.Glu13625=
NM_133432.3:c.21759A>G (TTN)	NP_597676.3:p.Glu7253=
NM_133437.4:c.21960A>G (TTN)	NP_597681.4:p.Glu7320=
NR_038271.1:n.1596T>C (TTN-AS1)
XM_011511729.1:c.47676A>G (TTN)	XP_011510031.1:p.Glu15892=
XM_011511730.1:c.21570A>G (TTN)	XP_011510032.1:p.Glu7190=
XM_011511731.1:c.21429A>G (TTN)	XP_011510033.1:p.Glu7143=
XM_017004819.1:c.47472A>G (TTN)	XP_016860308.1:p.Glu15824=
XM_017004820.1:c.42870A>G (TTN)	XP_016860309.1:p.Glu14290=
XM_017004821.1:c.42867A>G (TTN)	XP_016860310.1:p.Glu14289=
XM_017004822.1:c.39909A>G (TTN)	XP_016860311.1:p.Glu13303=
XM_017004823.1:c.21525A>G (TTN)	XP_016860312.1:p.Glu7175=
XM_024453094.1:c.43020A>G (TTN)	XP_024308862.1:p.Glu14340=
XM_024453095.1:c.43017A>G (TTN)	XP_024308863.1:p.Glu14339=
XM_024453096.1:c.42450A>G (TTN)	XP_024308864.1:p.Glu14150=
XM_024453097.1:c.39792A>G (TTN)	XP_024308865.1:p.Glu13264=
XM_024453098.1:c.39711A>G (TTN)	XP_024308866.1:p.Glu13237=
XM_024453099.1:c.21474A>G (TTN)	XP_024308867.1:p.Glu7158=
XM_024453100.1:c.11328A>G (TTN)	XP_024308868.1:p.Glu3776=