Canonical Allele Identifier: CA430114052

Gene: TTN

Linked Data

• ClinVar Variation Id: 2028202
• ClinVar RCV Id: RCV002867000
• MyVariant Identifiers: chr2:g.179495660A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630933A>T , CM000664.2:g.178630933A>T	GRCh38
NC_000002.11:g.179495660A>T , CM000664.1:g.179495660A>T	GRCh37
NC_000002.10:g.179203905A>T	NCBI36
NG_011618.3:g.204870T>A , LRG_391:g.204870T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36321T>A	ENSP00000343764.6:p.Ile12107=
ENST00000342175.11:c.17406T>A	ENSP00000340554.6:p.Ile5802=
ENST00000359218.10:c.17205T>A	ENSP00000352154.5:p.Ile5735=
ENST00000342175.10:c.17406T>A	ENSP00000340554.6:p.Ile5802=
ENST00000342992.10:c.36321T>A	ENSP00000343764.6:p.Ile12107=
ENST00000359218.9:c.17205T>A	ENSP00000352154.5:p.Ile5735=
ENST00000460472.6:c.16830T>A	ENSP00000434586.1:p.Ile5610=
ENST00000589042.5:c.44025T>A MANE Select	ENSP00000467141.1:p.Ile14675=
ENST00000591111.5:c.39102T>A	ENSP00000465570.1:p.Ile13034=
ENST00000615779.4:c.39102T>A	ENSP00000483597.1:p.Ile13034=
NM_001256850.1:c.39102T>A	NP_001243779.1:p.Ile13034=
NM_001267550.2:c.44025T>A MANE Select	NP_001254479.2:p.Ile14675=
NM_003319.4:c.16830T>A	NP_003310.4:p.Ile5610=
NM_133378.4:c.36321T>A	NP_596869.4:p.Ile12107=
NM_133432.3:c.17205T>A	NP_597676.3:p.Ile5735=
NM_133437.4:c.17406T>A	NP_597681.4:p.Ile5802=
XM_011511729.1:c.43122T>A	XP_011510031.1:p.Ile14374=
XM_011511730.1:c.17016T>A	XP_011510032.1:p.Ile5672=
XM_011511731.1:c.16875T>A	XP_011510033.1:p.Ile5625=
XM_017004819.1:c.42918T>A	XP_016860308.1:p.Ile14306=
XM_017004820.1:c.38316T>A	XP_016860309.1:p.Ile12772=
XM_017004821.1:c.38313T>A	XP_016860310.1:p.Ile12771=
XM_017004822.1:c.35355T>A	XP_016860311.1:p.Ile11785=
XM_017004823.1:c.16971T>A	XP_016860312.1:p.Ile5657=
XM_024453094.1:c.38466T>A	XP_024308862.1:p.Ile12822=
XM_024453095.1:c.38463T>A	XP_024308863.1:p.Ile12821=
XM_024453096.1:c.37896T>A	XP_024308864.1:p.Ile12632=
XM_024453097.1:c.35238T>A	XP_024308865.1:p.Ile11746=
XM_024453098.1:c.35157T>A	XP_024308866.1:p.Ile11719=
XM_024453099.1:c.16920T>A	XP_024308867.1:p.Ile5640=
XM_024453100.1:c.6774T>A	XP_024308868.1:p.Ile2258=