Canonical Allele Identifier: CA349446012

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408020A>C (hg19) ; chr2:g.178543293A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543293A>C , CM000664.2:g.178543293A>C	GRCh38
NC_000002.11:g.179408020A>C , CM000664.1:g.179408020A>C	GRCh37
NC_000002.10:g.179116266A>C	NCBI36
NG_011618.3:g.292510T>G , LRG_391:g.292510T>G
NG_051363.1:g.25467A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88976T>G (TTN)	ENSP00000343764.6:p.Leu29659Arg
ENST00000342175.11:c.70061T>G (TTN)	ENSP00000340554.6:p.Leu23354Arg
ENST00000359218.10:c.69860T>G (TTN)	ENSP00000352154.5:p.Leu23287Arg
ENST00000342175.10:c.70061T>G (TTN)	ENSP00000340554.6:p.Leu23354Arg
ENST00000342992.10:c.88976T>G (TTN)	ENSP00000343764.6:p.Leu29659Arg
ENST00000359218.9:c.69860T>G (TTN)	ENSP00000352154.5:p.Leu23287Arg
ENST00000460472.6:c.69485T>G (TTN)	ENSP00000434586.1:p.Leu23162Arg
ENST00000589042.5:c.96680T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32227Arg
ENST00000591111.5:c.91757T>G (TTN)	ENSP00000465570.1:p.Leu30586Arg
ENST00000615779.4:c.91757T>G (TTN)	ENSP00000483597.1:p.Leu30586Arg
NM_001256850.1:c.91757T>G (TTN)	NP_001243779.1:p.Leu30586Arg
NM_001267550.2:c.96680T>G (TTN) MANE Select	NP_001254479.2:p.Leu32227Arg
NM_003319.4:c.69485T>G (TTN)	NP_003310.4:p.Leu23162Arg
NM_133378.4:c.88976T>G (TTN)	NP_596869.4:p.Leu29659Arg
NM_133432.3:c.69860T>G (TTN)	NP_597676.3:p.Leu23287Arg
NM_133437.4:c.70061T>G (TTN)	NP_597681.4:p.Leu23354Arg
NR_038271.1:n.446+19657A>C (TTN-AS1)
NR_038272.1:n.2043+932A>C (TTN-AS1)
XM_011511729.1:c.95777T>G (TTN)	XP_011510031.1:p.Leu31926Arg
XM_011511730.1:c.69671T>G (TTN)	XP_011510032.1:p.Leu23224Arg
XM_011511731.1:c.69530T>G (TTN)	XP_011510033.1:p.Leu23177Arg
XM_017004819.1:c.95573T>G (TTN)	XP_016860308.1:p.Leu31858Arg
XM_017004820.1:c.90971T>G (TTN)	XP_016860309.1:p.Leu30324Arg
XM_017004821.1:c.90968T>G (TTN)	XP_016860310.1:p.Leu30323Arg
XM_017004822.1:c.88010T>G (TTN)	XP_016860311.1:p.Leu29337Arg
XM_017004823.1:c.69626T>G (TTN)	XP_016860312.1:p.Leu23209Arg
XM_024453094.1:c.91121T>G (TTN)	XP_024308862.1:p.Leu30374Arg
XM_024453095.1:c.91118T>G (TTN)	XP_024308863.1:p.Leu30373Arg
XM_024453096.1:c.90551T>G (TTN)	XP_024308864.1:p.Leu30184Arg
XM_024453097.1:c.87893T>G (TTN)	XP_024308865.1:p.Leu29298Arg
XM_024453098.1:c.87812T>G (TTN)	XP_024308866.1:p.Leu29271Arg
XM_024453099.1:c.69575T>G (TTN)	XP_024308867.1:p.Leu23192Arg
XM_024453100.1:c.59429T>G (TTN)	XP_024308868.1:p.Leu19810Arg