Canonical Allele Identifier: CA349502750

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416390G>C (hg19) ; chr2:g.178551663G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551663G>C , CM000664.2:g.178551663G>C	GRCh38
NC_000002.11:g.179416390G>C , CM000664.1:g.179416390G>C	GRCh37
NC_000002.10:g.179124636G>C	NCBI36
NG_011618.3:g.284140C>G , LRG_391:g.284140C>G
NG_051363.1:g.33837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83533C>G (TTN)	ENSP00000343764.6:p.Pro27845Ala
ENST00000342175.11:c.64618C>G (TTN)	ENSP00000340554.6:p.Pro21540Ala
ENST00000359218.10:c.64417C>G (TTN)	ENSP00000352154.5:p.Pro21473Ala
ENST00000342175.10:c.64618C>G (TTN)	ENSP00000340554.6:p.Pro21540Ala
ENST00000342992.10:c.83533C>G (TTN)	ENSP00000343764.6:p.Pro27845Ala
ENST00000359218.9:c.64417C>G (TTN)	ENSP00000352154.5:p.Pro21473Ala
ENST00000460472.6:c.64042C>G (TTN)	ENSP00000434586.1:p.Pro21348Ala
ENST00000589042.5:c.91237C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro30413Ala
ENST00000591111.5:c.86314C>G (TTN)	ENSP00000465570.1:p.Pro28772Ala
ENST00000615779.4:c.86314C>G (TTN)	ENSP00000483597.1:p.Pro28772Ala
NM_001256850.1:c.86314C>G (TTN)	NP_001243779.1:p.Pro28772Ala
NM_001267550.2:c.91237C>G (TTN) MANE Select	NP_001254479.2:p.Pro30413Ala
NM_003319.4:c.64042C>G (TTN)	NP_003310.4:p.Pro21348Ala
NM_133378.4:c.83533C>G (TTN)	NP_596869.4:p.Pro27845Ala
NM_133432.3:c.64417C>G (TTN)	NP_597676.3:p.Pro21473Ala
NM_133437.4:c.64618C>G (TTN)	NP_597681.4:p.Pro21540Ala
NR_038271.1:n.447-19637G>C (TTN-AS1)
NR_038272.1:n.2043+9302G>C (TTN-AS1)
XM_011511729.1:c.90334C>G (TTN)	XP_011510031.1:p.Pro30112Ala
XM_011511730.1:c.64228C>G (TTN)	XP_011510032.1:p.Pro21410Ala
XM_011511731.1:c.64087C>G (TTN)	XP_011510033.1:p.Pro21363Ala
XM_017004819.1:c.90130C>G (TTN)	XP_016860308.1:p.Pro30044Ala
XM_017004820.1:c.85528C>G (TTN)	XP_016860309.1:p.Pro28510Ala
XM_017004821.1:c.85525C>G (TTN)	XP_016860310.1:p.Pro28509Ala
XM_017004822.1:c.82567C>G (TTN)	XP_016860311.1:p.Pro27523Ala
XM_017004823.1:c.64183C>G (TTN)	XP_016860312.1:p.Pro21395Ala
XM_024453094.1:c.85678C>G (TTN)	XP_024308862.1:p.Pro28560Ala
XM_024453095.1:c.85675C>G (TTN)	XP_024308863.1:p.Pro28559Ala
XM_024453096.1:c.85108C>G (TTN)	XP_024308864.1:p.Pro28370Ala
XM_024453097.1:c.82450C>G (TTN)	XP_024308865.1:p.Pro27484Ala
XM_024453098.1:c.82369C>G (TTN)	XP_024308866.1:p.Pro27457Ala
XM_024453099.1:c.64132C>G (TTN)	XP_024308867.1:p.Pro21378Ala
XM_024453100.1:c.53986C>G (TTN)	XP_024308868.1:p.Pro17996Ala