Canonical Allele Identifier: CA430236949

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 499017
• ClinVar RCV Id: RCV000595885 ; RCV001447328
• dbSNP Id: rs1553492053
• gnomAD v4: 2-178533369-A-G
• MyVariant Identifiers: chr2:g.179398096A>G (hg19) ; chr2:g.178533369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533369A>G , CM000664.2:g.178533369A>G	GRCh38
NC_000002.11:g.179398096A>G , CM000664.1:g.179398096A>G	GRCh37
NC_000002.10:g.179106342A>G	NCBI36
NG_011618.3:g.302434T>C , LRG_391:g.302434T>C
NG_051363.1:g.15543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.95542T>C (TTN)	ENSP00000343764.6:p.Leu31848=
ENST00000342175.11:c.76627T>C (TTN)	ENSP00000340554.6:p.Leu25543=
ENST00000359218.10:c.76426T>C (TTN)	ENSP00000352154.5:p.Leu25476=
ENST00000342175.10:c.76627T>C (TTN)	ENSP00000340554.6:p.Leu25543=
ENST00000342992.10:c.95542T>C (TTN)	ENSP00000343764.6:p.Leu31848=
ENST00000359218.9:c.76426T>C (TTN)	ENSP00000352154.5:p.Leu25476=
ENST00000460472.6:c.76051T>C (TTN)	ENSP00000434586.1:p.Leu25351=
ENST00000589042.5:c.103246T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu34416=
ENST00000591111.5:c.98323T>C (TTN)	ENSP00000465570.1:p.Leu32775=
ENST00000615779.4:c.98323T>C (TTN)	ENSP00000483597.1:p.Leu32775=
NM_001256850.1:c.98323T>C (TTN)	NP_001243779.1:p.Leu32775=
NM_001267550.2:c.103246T>C (TTN) MANE Select	NP_001254479.2:p.Leu34416=
NM_003319.4:c.76051T>C (TTN)	NP_003310.4:p.Leu25351=
NM_133378.4:c.95542T>C (TTN)	NP_596869.4:p.Leu31848=
NM_133432.3:c.76426T>C (TTN)	NP_597676.3:p.Leu25476=
NM_133437.4:c.76627T>C (TTN)	NP_597681.4:p.Leu25543=
NR_038271.1:n.446+9733A>G (TTN-AS1)
NR_038272.1:n.220-2363A>G (TTN-AS1)
XM_011511729.1:c.102343T>C (TTN)	XP_011510031.1:p.Leu34115=
XM_011511730.1:c.76237T>C (TTN)	XP_011510032.1:p.Leu25413=
XM_011511731.1:c.76096T>C (TTN)	XP_011510033.1:p.Leu25366=
XM_017004819.1:c.102139T>C (TTN)	XP_016860308.1:p.Leu34047=
XM_017004820.1:c.97537T>C (TTN)	XP_016860309.1:p.Leu32513=
XM_017004821.1:c.97534T>C (TTN)	XP_016860310.1:p.Leu32512=
XM_017004822.1:c.94576T>C (TTN)	XP_016860311.1:p.Leu31526=
XM_017004823.1:c.76192T>C (TTN)	XP_016860312.1:p.Leu25398=
XM_024453094.1:c.97687T>C (TTN)	XP_024308862.1:p.Leu32563=
XM_024453095.1:c.97684T>C (TTN)	XP_024308863.1:p.Leu32562=
XM_024453096.1:c.97117T>C (TTN)	XP_024308864.1:p.Leu32373=
XM_024453097.1:c.94459T>C (TTN)	XP_024308865.1:p.Leu31487=
XM_024453098.1:c.94378T>C (TTN)	XP_024308866.1:p.Leu31460=
XM_024453099.1:c.76141T>C (TTN)	XP_024308867.1:p.Leu25381=
XM_024453100.1:c.65995T>C (TTN)	XP_024308868.1:p.Leu21999=