Canonical Allele Identifier: CA430241428

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1756090
• ClinVar RCV Id: RCV002362328
• MyVariant Identifiers: chr2:g.179408577G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543850G>A , CM000664.2:g.178543850G>A	GRCh38
NC_000002.11:g.179408577G>A , CM000664.1:g.179408577G>A	GRCh37
NC_000002.10:g.179116823G>A	NCBI36
NG_011618.3:g.291953C>T , LRG_391:g.291953C>T
NG_051363.1:g.26024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88590C>T (TTN)	ENSP00000343764.6:p.Val29530=
ENST00000342175.11:c.69675C>T (TTN)	ENSP00000340554.6:p.Val23225=
ENST00000359218.10:c.69474C>T (TTN)	ENSP00000352154.5:p.Val23158=
ENST00000342175.10:c.69675C>T (TTN)	ENSP00000340554.6:p.Val23225=
ENST00000342992.10:c.88590C>T (TTN)	ENSP00000343764.6:p.Val29530=
ENST00000359218.9:c.69474C>T (TTN)	ENSP00000352154.5:p.Val23158=
ENST00000460472.6:c.69099C>T (TTN)	ENSP00000434586.1:p.Val23033=
ENST00000589042.5:c.96294C>T (TTN) MANE Select	ENSP00000467141.1:p.Val32098=
ENST00000591111.5:c.91371C>T (TTN)	ENSP00000465570.1:p.Val30457=
ENST00000615779.4:c.91371C>T (TTN)	ENSP00000483597.1:p.Val30457=
NM_001256850.1:c.91371C>T (TTN)	NP_001243779.1:p.Val30457=
NM_001267550.2:c.96294C>T (TTN) MANE Select	NP_001254479.2:p.Val32098=
NM_003319.4:c.69099C>T (TTN)	NP_003310.4:p.Val23033=
NM_133378.4:c.88590C>T (TTN)	NP_596869.4:p.Val29530=
NM_133432.3:c.69474C>T (TTN)	NP_597676.3:p.Val23158=
NM_133437.4:c.69675C>T (TTN)	NP_597681.4:p.Val23225=
NR_038271.1:n.446+20214G>A (TTN-AS1)
NR_038272.1:n.2043+1489G>A (TTN-AS1)
XM_011511729.1:c.95391C>T (TTN)	XP_011510031.1:p.Val31797=
XM_011511730.1:c.69285C>T (TTN)	XP_011510032.1:p.Val23095=
XM_011511731.1:c.69144C>T (TTN)	XP_011510033.1:p.Val23048=
XM_017004819.1:c.95187C>T (TTN)	XP_016860308.1:p.Val31729=
XM_017004820.1:c.90585C>T (TTN)	XP_016860309.1:p.Val30195=
XM_017004821.1:c.90582C>T (TTN)	XP_016860310.1:p.Val30194=
XM_017004822.1:c.87624C>T (TTN)	XP_016860311.1:p.Val29208=
XM_017004823.1:c.69240C>T (TTN)	XP_016860312.1:p.Val23080=
XM_024453094.1:c.90735C>T (TTN)	XP_024308862.1:p.Val30245=
XM_024453095.1:c.90732C>T (TTN)	XP_024308863.1:p.Val30244=
XM_024453096.1:c.90165C>T (TTN)	XP_024308864.1:p.Val30055=
XM_024453097.1:c.87507C>T (TTN)	XP_024308865.1:p.Val29169=
XM_024453098.1:c.87426C>T (TTN)	XP_024308866.1:p.Val29142=
XM_024453099.1:c.69189C>T (TTN)	XP_024308867.1:p.Val23063=
XM_024453100.1:c.59043C>T (TTN)	XP_024308868.1:p.Val19681=