Canonical Allele Identifier: CA1988507

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 229535
• ClinVar RCV Id: RCV002354616
• dbSNP Id: rs781458689
• ExAC: 2:179424466 C / T
• gnomAD v2: 2-179424466-C-T
• gnomAD v4: 2-178559739-C-T
• MyVariant Identifiers: chr2:g.179424466C>T (hg19) ; chr2:g.178559739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559739C>T , CM000664.2:g.178559739C>T	GRCh38
NC_000002.11:g.179424466C>T , CM000664.1:g.179424466C>T	GRCh37
NC_000002.10:g.179132712C>T	NCBI36
NG_011618.3:g.276064G>A , LRG_391:g.276064G>A
NG_051363.1:g.41913C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78689G>A (TTN)	ENSP00000343764.6:p.Arg26230Lys
ENST00000342175.11:c.59774G>A (TTN)	ENSP00000340554.6:p.Arg19925Lys
ENST00000359218.10:c.59573G>A (TTN)	ENSP00000352154.5:p.Arg19858Lys
ENST00000342175.10:c.59774G>A (TTN)	ENSP00000340554.6:p.Arg19925Lys
ENST00000342992.10:c.78689G>A (TTN)	ENSP00000343764.6:p.Arg26230Lys
ENST00000359218.9:c.59573G>A (TTN)	ENSP00000352154.5:p.Arg19858Lys
ENST00000460472.6:c.59198G>A (TTN)	ENSP00000434586.1:p.Arg19733Lys
ENST00000589042.5:c.86393G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg28798Lys
ENST00000591111.5:c.81470G>A (TTN)	ENSP00000465570.1:p.Arg27157Lys
ENST00000615779.4:c.81470G>A (TTN)	ENSP00000483597.1:p.Arg27157Lys
NM_001256850.1:c.81470G>A (TTN)	NP_001243779.1:p.Arg27157Lys
NM_001267550.2:c.86393G>A (TTN) MANE Select	NP_001254479.2:p.Arg28798Lys
NM_003319.4:c.59198G>A (TTN)	NP_003310.4:p.Arg19733Lys
NM_133378.4:c.78689G>A (TTN)	NP_596869.4:p.Arg26230Lys
NM_133432.3:c.59573G>A (TTN)	NP_597676.3:p.Arg19858Lys
NM_133437.4:c.59774G>A (TTN)	NP_597681.4:p.Arg19925Lys
NR_038271.1:n.447-11561C>T (TTN-AS1)
NR_038272.1:n.2043+17378C>T (TTN-AS1)
XM_011511729.1:c.85490G>A (TTN)	XP_011510031.1:p.Arg28497Lys
XM_011511730.1:c.59384G>A (TTN)	XP_011510032.1:p.Arg19795Lys
XM_011511731.1:c.59243G>A (TTN)	XP_011510033.1:p.Arg19748Lys
XM_017004819.1:c.85286G>A (TTN)	XP_016860308.1:p.Arg28429Lys
XM_017004820.1:c.80684G>A (TTN)	XP_016860309.1:p.Arg26895Lys
XM_017004821.1:c.80681G>A (TTN)	XP_016860310.1:p.Arg26894Lys
XM_017004822.1:c.77723G>A (TTN)	XP_016860311.1:p.Arg25908Lys
XM_017004823.1:c.59339G>A (TTN)	XP_016860312.1:p.Arg19780Lys
XM_024453094.1:c.80834G>A (TTN)	XP_024308862.1:p.Arg26945Lys
XM_024453095.1:c.80831G>A (TTN)	XP_024308863.1:p.Arg26944Lys
XM_024453096.1:c.80264G>A (TTN)	XP_024308864.1:p.Arg26755Lys
XM_024453097.1:c.77606G>A (TTN)	XP_024308865.1:p.Arg25869Lys
XM_024453098.1:c.77525G>A (TTN)	XP_024308866.1:p.Arg25842Lys
XM_024453099.1:c.59288G>A (TTN)	XP_024308867.1:p.Arg19763Lys
XM_024453100.1:c.49142G>A (TTN)	XP_024308868.1:p.Arg16381Lys