Canonical Allele Identifier: CA349407118

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154132834
• MyVariant Identifiers: chr2:g.179395280T>A (hg19) ; chr2:g.178530553T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530553T>A , CM000664.2:g.178530553T>A	GRCh38
NC_000002.11:g.179395280T>A , CM000664.1:g.179395280T>A	GRCh37
NC_000002.10:g.179103526T>A	NCBI36
NG_011618.3:g.305250A>T , LRG_391:g.305250A>T
NG_051363.1:g.12727T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98358A>T (TTN)	ENSP00000343764.6:p.Gln32786His
ENST00000342175.11:c.79443A>T (TTN)	ENSP00000340554.6:p.Gln26481His
ENST00000359218.10:c.79242A>T (TTN)	ENSP00000352154.5:p.Gln26414His
ENST00000342175.10:c.79443A>T (TTN)	ENSP00000340554.6:p.Gln26481His
ENST00000342992.10:c.98358A>T (TTN)	ENSP00000343764.6:p.Gln32786His
ENST00000359218.9:c.79242A>T (TTN)	ENSP00000352154.5:p.Gln26414His
ENST00000460472.6:c.78867A>T (TTN)	ENSP00000434586.1:p.Gln26289His
ENST00000589042.5:c.106062A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln35354His
ENST00000591111.5:c.101139A>T (TTN)	ENSP00000465570.1:p.Gln33713His
ENST00000615779.4:c.101139A>T (TTN)	ENSP00000483597.1:p.Gln33713His
NM_001256850.1:c.101139A>T (TTN)	NP_001243779.1:p.Gln33713His
NM_001267550.2:c.106062A>T (TTN) MANE Select	NP_001254479.2:p.Gln35354His
NM_003319.4:c.78867A>T (TTN)	NP_003310.4:p.Gln26289His
NM_133378.4:c.98358A>T (TTN)	NP_596869.4:p.Gln32786His
NM_133432.3:c.79242A>T (TTN)	NP_597676.3:p.Gln26414His
NM_133437.4:c.79443A>T (TTN)	NP_597681.4:p.Gln26481His
NR_038271.1:n.446+6917T>A (TTN-AS1)
NR_038272.1:n.220-5179T>A (TTN-AS1)
XM_011511729.1:c.105159A>T (TTN)	XP_011510031.1:p.Gln35053His
XM_011511730.1:c.79053A>T (TTN)	XP_011510032.1:p.Gln26351His
XM_011511731.1:c.78912A>T (TTN)	XP_011510033.1:p.Gln26304His
XM_017004819.1:c.104955A>T (TTN)	XP_016860308.1:p.Gln34985His
XM_017004820.1:c.100353A>T (TTN)	XP_016860309.1:p.Gln33451His
XM_017004821.1:c.100350A>T (TTN)	XP_016860310.1:p.Gln33450His
XM_017004822.1:c.97392A>T (TTN)	XP_016860311.1:p.Gln32464His
XM_017004823.1:c.79008A>T (TTN)	XP_016860312.1:p.Gln26336His
XM_024453094.1:c.100503A>T (TTN)	XP_024308862.1:p.Gln33501His
XM_024453095.1:c.100500A>T (TTN)	XP_024308863.1:p.Gln33500His
XM_024453096.1:c.99933A>T (TTN)	XP_024308864.1:p.Gln33311His
XM_024453097.1:c.97275A>T (TTN)	XP_024308865.1:p.Gln32425His
XM_024453098.1:c.97194A>T (TTN)	XP_024308866.1:p.Gln32398His
XM_024453099.1:c.78957A>T (TTN)	XP_024308867.1:p.Gln26319His
XM_024453100.1:c.68811A>T (TTN)	XP_024308868.1:p.Gln22937His