Canonical Allele Identifier: CA349645151

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494976C>A (hg19) ; chr2:g.178630249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630249C>A , CM000664.2:g.178630249C>A	GRCh38
NC_000002.11:g.179494976C>A , CM000664.1:g.179494976C>A	GRCh37
NC_000002.10:g.179203221C>A	NCBI36
NG_011618.3:g.205554G>T , LRG_391:g.205554G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36569G>T	ENSP00000343764.6:p.Arg12190Leu
ENST00000342175.11:c.17654G>T	ENSP00000340554.6:p.Arg5885Leu
ENST00000359218.10:c.17453G>T	ENSP00000352154.5:p.Arg5818Leu
ENST00000342175.10:c.17654G>T	ENSP00000340554.6:p.Arg5885Leu
ENST00000342992.10:c.36569G>T	ENSP00000343764.6:p.Arg12190Leu
ENST00000359218.9:c.17453G>T	ENSP00000352154.5:p.Arg5818Leu
ENST00000460472.6:c.17078G>T	ENSP00000434586.1:p.Arg5693Leu
ENST00000589042.5:c.44273G>T MANE Select	ENSP00000467141.1:p.Arg14758Leu
ENST00000591111.5:c.39350G>T	ENSP00000465570.1:p.Arg13117Leu
ENST00000615779.4:c.39350G>T	ENSP00000483597.1:p.Arg13117Leu
NM_001256850.1:c.39350G>T	NP_001243779.1:p.Arg13117Leu
NM_001267550.2:c.44273G>T MANE Select	NP_001254479.2:p.Arg14758Leu
NM_003319.4:c.17078G>T	NP_003310.4:p.Arg5693Leu
NM_133378.4:c.36569G>T	NP_596869.4:p.Arg12190Leu
NM_133432.3:c.17453G>T	NP_597676.3:p.Arg5818Leu
NM_133437.4:c.17654G>T	NP_597681.4:p.Arg5885Leu
XM_011511729.1:c.43370G>T	XP_011510031.1:p.Arg14457Leu
XM_011511730.1:c.17264G>T	XP_011510032.1:p.Arg5755Leu
XM_011511731.1:c.17123G>T	XP_011510033.1:p.Arg5708Leu
XM_017004819.1:c.43166G>T	XP_016860308.1:p.Arg14389Leu
XM_017004820.1:c.38564G>T	XP_016860309.1:p.Arg12855Leu
XM_017004821.1:c.38561G>T	XP_016860310.1:p.Arg12854Leu
XM_017004822.1:c.35603G>T	XP_016860311.1:p.Arg11868Leu
XM_017004823.1:c.17219G>T	XP_016860312.1:p.Arg5740Leu
XM_024453094.1:c.38714G>T	XP_024308862.1:p.Arg12905Leu
XM_024453095.1:c.38711G>T	XP_024308863.1:p.Arg12904Leu
XM_024453096.1:c.38144G>T	XP_024308864.1:p.Arg12715Leu
XM_024453097.1:c.35486G>T	XP_024308865.1:p.Arg11829Leu
XM_024453098.1:c.35405G>T	XP_024308866.1:p.Arg11802Leu
XM_024453099.1:c.17168G>T	XP_024308867.1:p.Arg5723Leu
XM_024453100.1:c.7022G>T	XP_024308868.1:p.Arg2341Leu