Canonical Allele Identifier: CA349618692

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482926C>A (hg19) ; chr2:g.178618199C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618199C>A , CM000664.2:g.178618199C>A	GRCh38
NC_000002.11:g.179482926C>A , CM000664.1:g.179482926C>A	GRCh37
NC_000002.10:g.179191171C>A	NCBI36
NG_011618.3:g.217604G>T , LRG_391:g.217604G>T
NG_051363.1:g.100373C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39555G>T (TTN)	ENSP00000343764.6:p.Arg13185Ser
ENST00000342175.11:c.20640G>T (TTN)	ENSP00000340554.6:p.Arg6880Ser
ENST00000359218.10:c.20439G>T (TTN)	ENSP00000352154.5:p.Arg6813Ser
ENST00000342175.10:c.20640G>T (TTN)	ENSP00000340554.6:p.Arg6880Ser
ENST00000342992.10:c.39555G>T (TTN)	ENSP00000343764.6:p.Arg13185Ser
ENST00000359218.9:c.20439G>T (TTN)	ENSP00000352154.5:p.Arg6813Ser
ENST00000460472.6:c.20064G>T (TTN)	ENSP00000434586.1:p.Arg6688Ser
ENST00000589042.5:c.47259G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg15753Ser
ENST00000591111.5:c.42336G>T (TTN)	ENSP00000465570.1:p.Arg14112Ser
ENST00000615779.4:c.42336G>T (TTN)	ENSP00000483597.1:p.Arg14112Ser
NM_001256850.1:c.42336G>T (TTN)	NP_001243779.1:p.Arg14112Ser
NM_001267550.2:c.47259G>T (TTN) MANE Select	NP_001254479.2:p.Arg15753Ser
NM_003319.4:c.20064G>T (TTN)	NP_003310.4:p.Arg6688Ser
NM_133378.4:c.39555G>T (TTN)	NP_596869.4:p.Arg13185Ser
NM_133432.3:c.20439G>T (TTN)	NP_597676.3:p.Arg6813Ser
NM_133437.4:c.20640G>T (TTN)	NP_597681.4:p.Arg6880Ser
NR_038271.1:n.1605-1554C>A (TTN-AS1)
XM_011511729.1:c.46356G>T (TTN)	XP_011510031.1:p.Arg15452Ser
XM_011511730.1:c.20250G>T (TTN)	XP_011510032.1:p.Arg6750Ser
XM_011511731.1:c.20109G>T (TTN)	XP_011510033.1:p.Arg6703Ser
XM_017004819.1:c.46152G>T (TTN)	XP_016860308.1:p.Arg15384Ser
XM_017004820.1:c.41550G>T (TTN)	XP_016860309.1:p.Arg13850Ser
XM_017004821.1:c.41547G>T (TTN)	XP_016860310.1:p.Arg13849Ser
XM_017004822.1:c.38589G>T (TTN)	XP_016860311.1:p.Arg12863Ser
XM_017004823.1:c.20205G>T (TTN)	XP_016860312.1:p.Arg6735Ser
XM_024453094.1:c.41700G>T (TTN)	XP_024308862.1:p.Arg13900Ser
XM_024453095.1:c.41697G>T (TTN)	XP_024308863.1:p.Arg13899Ser
XM_024453096.1:c.41130G>T (TTN)	XP_024308864.1:p.Arg13710Ser
XM_024453097.1:c.38472G>T (TTN)	XP_024308865.1:p.Arg12824Ser
XM_024453098.1:c.38391G>T (TTN)	XP_024308866.1:p.Arg12797Ser
XM_024453099.1:c.20154G>T (TTN)	XP_024308867.1:p.Arg6718Ser
XM_024453100.1:c.10008G>T (TTN)	XP_024308868.1:p.Arg3336Ser