Canonical Allele Identifier: CA10612010

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332702
• ClinVar RCV Id: RCV000267805 ; RCV000278888 ; RCV000321791 ; RCV000323356 ; RCV000373413 ; RCV000376402
• dbSNP Id: rs886055226
• MyVariant Identifiers: chr2:g.179400304T>C (hg19) ; chr2:g.178535577T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535577T>C , CM000664.2:g.178535577T>C	GRCh38
NC_000002.11:g.179400304T>C , CM000664.1:g.179400304T>C	GRCh37
NC_000002.10:g.179108550T>C	NCBI36
NG_011618.3:g.300226A>G , LRG_391:g.300226A>G
NG_051363.1:g.17751T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.93334A>G (TTN)	ENSP00000343764.6:p.Lys31112Glu
ENST00000342175.11:c.74419A>G (TTN)	ENSP00000340554.6:p.Lys24807Glu
ENST00000359218.10:c.74218A>G (TTN)	ENSP00000352154.5:p.Lys24740Glu
ENST00000342175.10:c.74419A>G (TTN)	ENSP00000340554.6:p.Lys24807Glu
ENST00000342992.10:c.93334A>G (TTN)	ENSP00000343764.6:p.Lys31112Glu
ENST00000359218.9:c.74218A>G (TTN)	ENSP00000352154.5:p.Lys24740Glu
ENST00000460472.6:c.73843A>G (TTN)	ENSP00000434586.1:p.Lys24615Glu
ENST00000589042.5:c.101038A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys33680Glu
ENST00000591111.5:c.96115A>G (TTN)	ENSP00000465570.1:p.Lys32039Glu
ENST00000615779.4:c.96115A>G (TTN)	ENSP00000483597.1:p.Lys32039Glu
NM_001256850.1:c.96115A>G (TTN)	NP_001243779.1:p.Lys32039Glu
NM_001267550.2:c.101038A>G (TTN) MANE Select	NP_001254479.2:p.Lys33680Glu
NM_003319.4:c.73843A>G (TTN)	NP_003310.4:p.Lys24615Glu
NM_133378.4:c.93334A>G (TTN)	NP_596869.4:p.Lys31112Glu
NM_133432.3:c.74218A>G (TTN)	NP_597676.3:p.Lys24740Glu
NM_133437.4:c.74419A>G (TTN)	NP_597681.4:p.Lys24807Glu
NR_038271.1:n.446+11941T>C (TTN-AS1)
NR_038272.1:n.220-155T>C (TTN-AS1)
XM_011511729.1:c.100135A>G (TTN)	XP_011510031.1:p.Lys33379Glu
XM_011511730.1:c.74029A>G (TTN)	XP_011510032.1:p.Lys24677Glu
XM_011511731.1:c.73888A>G (TTN)	XP_011510033.1:p.Lys24630Glu
XM_017004819.1:c.99931A>G (TTN)	XP_016860308.1:p.Lys33311Glu
XM_017004820.1:c.95329A>G (TTN)	XP_016860309.1:p.Lys31777Glu
XM_017004821.1:c.95326A>G (TTN)	XP_016860310.1:p.Lys31776Glu
XM_017004822.1:c.92368A>G (TTN)	XP_016860311.1:p.Lys30790Glu
XM_017004823.1:c.73984A>G (TTN)	XP_016860312.1:p.Lys24662Glu
XM_024453094.1:c.95479A>G (TTN)	XP_024308862.1:p.Lys31827Glu
XM_024453095.1:c.95476A>G (TTN)	XP_024308863.1:p.Lys31826Glu
XM_024453096.1:c.94909A>G (TTN)	XP_024308864.1:p.Lys31637Glu
XM_024453097.1:c.92251A>G (TTN)	XP_024308865.1:p.Lys30751Glu
XM_024453098.1:c.92170A>G (TTN)	XP_024308866.1:p.Lys30724Glu
XM_024453099.1:c.73933A>G (TTN)	XP_024308867.1:p.Lys24645Glu
XM_024453100.1:c.63787A>G (TTN)	XP_024308868.1:p.Lys21263Glu