Canonical Allele Identifier: CA1995766

Gene: TTN

Linked Data

• ClinVar Variation Id: 571684
• ClinVar RCV Id: RCV002406576 ; RCV003486918
• dbSNP Id: rs776970935
• ExAC: 2:179495650 G / A
• gnomAD v2: 2-179495650-G-A
• gnomAD v4: 2-178630923-G-A
• COSMIC: COSM1403083 ; COSM1403084 ; COSM1403085 ; COSM1403086
• MyVariant Identifiers: chr2:g.179495650G>A (hg19) ; chr2:g.178630923G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630923G>A , CM000664.2:g.178630923G>A	GRCh38
NC_000002.11:g.179495650G>A , CM000664.1:g.179495650G>A	GRCh37
NC_000002.10:g.179203895G>A	NCBI36
NG_011618.3:g.204880C>T , LRG_391:g.204880C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36331C>T	ENSP00000343764.6:p.Arg12111Ter
ENST00000342175.11:c.17416C>T	ENSP00000340554.6:p.Arg5806Ter
ENST00000359218.10:c.17215C>T	ENSP00000352154.5:p.Arg5739Ter
ENST00000342175.10:c.17416C>T	ENSP00000340554.6:p.Arg5806Ter
ENST00000342992.10:c.36331C>T	ENSP00000343764.6:p.Arg12111Ter
ENST00000359218.9:c.17215C>T	ENSP00000352154.5:p.Arg5739Ter
ENST00000460472.6:c.16840C>T	ENSP00000434586.1:p.Arg5614Ter
ENST00000589042.5:c.44035C>T MANE Select	ENSP00000467141.1:p.Arg14679Ter
ENST00000591111.5:c.39112C>T	ENSP00000465570.1:p.Arg13038Ter
ENST00000615779.4:c.39112C>T	ENSP00000483597.1:p.Arg13038Ter
NM_001256850.1:c.39112C>T	NP_001243779.1:p.Arg13038Ter
NM_001267550.2:c.44035C>T MANE Select	NP_001254479.2:p.Arg14679Ter
NM_003319.4:c.16840C>T	NP_003310.4:p.Arg5614Ter
NM_133378.4:c.36331C>T	NP_596869.4:p.Arg12111Ter
NM_133432.3:c.17215C>T	NP_597676.3:p.Arg5739Ter
NM_133437.4:c.17416C>T	NP_597681.4:p.Arg5806Ter
XM_011511729.1:c.43132C>T	XP_011510031.1:p.Arg14378Ter
XM_011511730.1:c.17026C>T	XP_011510032.1:p.Arg5676Ter
XM_011511731.1:c.16885C>T	XP_011510033.1:p.Arg5629Ter
XM_017004819.1:c.42928C>T	XP_016860308.1:p.Arg14310Ter
XM_017004820.1:c.38326C>T	XP_016860309.1:p.Arg12776Ter
XM_017004821.1:c.38323C>T	XP_016860310.1:p.Arg12775Ter
XM_017004822.1:c.35365C>T	XP_016860311.1:p.Arg11789Ter
XM_017004823.1:c.16981C>T	XP_016860312.1:p.Arg5661Ter
XM_024453094.1:c.38476C>T	XP_024308862.1:p.Arg12826Ter
XM_024453095.1:c.38473C>T	XP_024308863.1:p.Arg12825Ter
XM_024453096.1:c.37906C>T	XP_024308864.1:p.Arg12636Ter
XM_024453097.1:c.35248C>T	XP_024308865.1:p.Arg11750Ter
XM_024453098.1:c.35167C>T	XP_024308866.1:p.Arg11723Ter
XM_024453099.1:c.16930C>T	XP_024308867.1:p.Arg5644Ter
XM_024453100.1:c.6784C>T	XP_024308868.1:p.Arg2262Ter