Canonical Allele Identifier: CA430113386

Gene: TTN

Linked Data

• ClinVar Variation Id: 1778464
• ClinVar RCV Id: RCV002414744
• MyVariant Identifiers: chr2:g.179494975T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630248T>C , CM000664.2:g.178630248T>C	GRCh38
NC_000002.11:g.179494975T>C , CM000664.1:g.179494975T>C	GRCh37
NC_000002.10:g.179203220T>C	NCBI36
NG_011618.3:g.205555A>G , LRG_391:g.205555A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36570A>G	ENSP00000343764.6:p.Arg12190=
ENST00000342175.11:c.17655A>G	ENSP00000340554.6:p.Arg5885=
ENST00000359218.10:c.17454A>G	ENSP00000352154.5:p.Arg5818=
ENST00000342175.10:c.17655A>G	ENSP00000340554.6:p.Arg5885=
ENST00000342992.10:c.36570A>G	ENSP00000343764.6:p.Arg12190=
ENST00000359218.9:c.17454A>G	ENSP00000352154.5:p.Arg5818=
ENST00000460472.6:c.17079A>G	ENSP00000434586.1:p.Arg5693=
ENST00000589042.5:c.44274A>G MANE Select	ENSP00000467141.1:p.Arg14758=
ENST00000591111.5:c.39351A>G	ENSP00000465570.1:p.Arg13117=
ENST00000615779.4:c.39351A>G	ENSP00000483597.1:p.Arg13117=
NM_001256850.1:c.39351A>G	NP_001243779.1:p.Arg13117=
NM_001267550.2:c.44274A>G MANE Select	NP_001254479.2:p.Arg14758=
NM_003319.4:c.17079A>G	NP_003310.4:p.Arg5693=
NM_133378.4:c.36570A>G	NP_596869.4:p.Arg12190=
NM_133432.3:c.17454A>G	NP_597676.3:p.Arg5818=
NM_133437.4:c.17655A>G	NP_597681.4:p.Arg5885=
XM_011511729.1:c.43371A>G	XP_011510031.1:p.Arg14457=
XM_011511730.1:c.17265A>G	XP_011510032.1:p.Arg5755=
XM_011511731.1:c.17124A>G	XP_011510033.1:p.Arg5708=
XM_017004819.1:c.43167A>G	XP_016860308.1:p.Arg14389=
XM_017004820.1:c.38565A>G	XP_016860309.1:p.Arg12855=
XM_017004821.1:c.38562A>G	XP_016860310.1:p.Arg12854=
XM_017004822.1:c.35604A>G	XP_016860311.1:p.Arg11868=
XM_017004823.1:c.17220A>G	XP_016860312.1:p.Arg5740=
XM_024453094.1:c.38715A>G	XP_024308862.1:p.Arg12905=
XM_024453095.1:c.38712A>G	XP_024308863.1:p.Arg12904=
XM_024453096.1:c.38145A>G	XP_024308864.1:p.Arg12715=
XM_024453097.1:c.35487A>G	XP_024308865.1:p.Arg11829=
XM_024453098.1:c.35406A>G	XP_024308866.1:p.Arg11802=
XM_024453099.1:c.17169A>G	XP_024308867.1:p.Arg5723=
XM_024453100.1:c.7023A>G	XP_024308868.1:p.Arg2341=