Canonical Allele Identifier: CA430269347

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1101887
• ClinVar RCV Id: RCV001424987
• dbSNP Id: rs2154193559
• MyVariant Identifiers: chr2:g.179467067T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178602340T>C , CM000664.2:g.178602340T>C	GRCh38
NC_000002.11:g.179467067T>C , CM000664.1:g.179467067T>C	GRCh37
NC_000002.10:g.179175312T>C	NCBI36
NG_011618.3:g.233463A>G , LRG_391:g.233463A>G
NG_051363.1:g.84514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47358A>G (TTN)	ENSP00000343764.6:p.Glu15786=
ENST00000342175.11:c.28443A>G (TTN)	ENSP00000340554.6:p.Glu9481=
ENST00000359218.10:c.28242A>G (TTN)	ENSP00000352154.5:p.Glu9414=
ENST00000342175.10:c.28443A>G (TTN)	ENSP00000340554.6:p.Glu9481=
ENST00000342992.10:c.47358A>G (TTN)	ENSP00000343764.6:p.Glu15786=
ENST00000359218.9:c.28242A>G (TTN)	ENSP00000352154.5:p.Glu9414=
ENST00000460472.6:c.27867A>G (TTN)	ENSP00000434586.1:p.Glu9289=
ENST00000589042.5:c.55062A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu18354=
ENST00000591111.5:c.50139A>G (TTN)	ENSP00000465570.1:p.Glu16713=
ENST00000615779.4:c.50139A>G (TTN)	ENSP00000483597.1:p.Glu16713=
NM_001256850.1:c.50139A>G (TTN)	NP_001243779.1:p.Glu16713=
NM_001267550.2:c.55062A>G (TTN) MANE Select	NP_001254479.2:p.Glu18354=
NM_003319.4:c.27867A>G (TTN)	NP_003310.4:p.Glu9289=
NM_133378.4:c.47358A>G (TTN)	NP_596869.4:p.Glu15786=
NM_133432.3:c.28242A>G (TTN)	NP_597676.3:p.Glu9414=
NM_133437.4:c.28443A>G (TTN)	NP_597681.4:p.Glu9481=
NR_038271.1:n.682+4659T>C (TTN-AS1)
NR_038272.1:n.3917+1673T>C (TTN-AS1)
XM_011511729.1:c.54159A>G (TTN)	XP_011510031.1:p.Glu18053=
XM_011511730.1:c.28053A>G (TTN)	XP_011510032.1:p.Glu9351=
XM_011511731.1:c.27912A>G (TTN)	XP_011510033.1:p.Glu9304=
XM_017004819.1:c.53955A>G (TTN)	XP_016860308.1:p.Glu17985=
XM_017004820.1:c.49353A>G (TTN)	XP_016860309.1:p.Glu16451=
XM_017004821.1:c.49350A>G (TTN)	XP_016860310.1:p.Glu16450=
XM_017004822.1:c.46392A>G (TTN)	XP_016860311.1:p.Glu15464=
XM_017004823.1:c.28008A>G (TTN)	XP_016860312.1:p.Glu9336=
XM_024453094.1:c.49503A>G (TTN)	XP_024308862.1:p.Glu16501=
XM_024453095.1:c.49500A>G (TTN)	XP_024308863.1:p.Glu16500=
XM_024453096.1:c.48933A>G (TTN)	XP_024308864.1:p.Glu16311=
XM_024453097.1:c.46275A>G (TTN)	XP_024308865.1:p.Glu15425=
XM_024453098.1:c.46194A>G (TTN)	XP_024308866.1:p.Glu15398=
XM_024453099.1:c.27957A>G (TTN)	XP_024308867.1:p.Glu9319=
XM_024453100.1:c.17811A>G (TTN)	XP_024308868.1:p.Glu5937=