Canonical Allele Identifier: CA10605401

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 286216
• ClinVar RCV Id: RCV000397849 ; RCV002519215
• dbSNP Id: rs886043341
• MyVariant Identifiers: chr2:g.179480060G>A (hg19) ; chr2:g.178615333G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178615333G>A , CM000664.2:g.178615333G>A	GRCh38
NC_000002.11:g.179480060G>A , CM000664.1:g.179480060G>A	GRCh37
NC_000002.10:g.179188305G>A	NCBI36
NG_011618.3:g.220470C>T , LRG_391:g.220470C>T
NG_051363.1:g.97507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.40908C>T (TTN)	ENSP00000343764.6:p.Ala13636=
ENST00000342175.11:c.21993C>T (TTN)	ENSP00000340554.6:p.Ala7331=
ENST00000359218.10:c.21792C>T (TTN)	ENSP00000352154.5:p.Ala7264=
ENST00000342175.10:c.21993C>T (TTN)	ENSP00000340554.6:p.Ala7331=
ENST00000342992.10:c.40908C>T (TTN)	ENSP00000343764.6:p.Ala13636=
ENST00000359218.9:c.21792C>T (TTN)	ENSP00000352154.5:p.Ala7264=
ENST00000460472.6:c.21417C>T (TTN)	ENSP00000434586.1:p.Ala7139=
ENST00000589042.5:c.48612C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala16204=
ENST00000591111.5:c.43689C>T (TTN)	ENSP00000465570.1:p.Ala14563=
ENST00000615779.4:c.43689C>T (TTN)	ENSP00000483597.1:p.Ala14563=
NM_001256850.1:c.43689C>T (TTN)	NP_001243779.1:p.Ala14563=
NM_001267550.2:c.48612C>T (TTN) MANE Select	NP_001254479.2:p.Ala16204=
NM_003319.4:c.21417C>T (TTN)	NP_003310.4:p.Ala7139=
NM_133378.4:c.40908C>T (TTN)	NP_596869.4:p.Ala13636=
NM_133432.3:c.21792C>T (TTN)	NP_597676.3:p.Ala7264=
NM_133437.4:c.21993C>T (TTN)	NP_597681.4:p.Ala7331=
NR_038271.1:n.1563G>A (TTN-AS1)
XM_011511729.1:c.47709C>T (TTN)	XP_011510031.1:p.Ala15903=
XM_011511730.1:c.21603C>T (TTN)	XP_011510032.1:p.Ala7201=
XM_011511731.1:c.21462C>T (TTN)	XP_011510033.1:p.Ala7154=
XM_017004819.1:c.47505C>T (TTN)	XP_016860308.1:p.Ala15835=
XM_017004820.1:c.42903C>T (TTN)	XP_016860309.1:p.Ala14301=
XM_017004821.1:c.42900C>T (TTN)	XP_016860310.1:p.Ala14300=
XM_017004822.1:c.39942C>T (TTN)	XP_016860311.1:p.Ala13314=
XM_017004823.1:c.21558C>T (TTN)	XP_016860312.1:p.Ala7186=
XM_024453094.1:c.43053C>T (TTN)	XP_024308862.1:p.Ala14351=
XM_024453095.1:c.43050C>T (TTN)	XP_024308863.1:p.Ala14350=
XM_024453096.1:c.42483C>T (TTN)	XP_024308864.1:p.Ala14161=
XM_024453097.1:c.39825C>T (TTN)	XP_024308865.1:p.Ala13275=
XM_024453098.1:c.39744C>T (TTN)	XP_024308866.1:p.Ala13248=
XM_024453099.1:c.21507C>T (TTN)	XP_024308867.1:p.Ala7169=
XM_024453100.1:c.11361C>T (TTN)	XP_024308868.1:p.Ala3787=