Canonical Allele Identifier: CA60990679

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1121098
• ClinVar RCV Id: RCV001451291
• dbSNP Id: rs961585462
• MyVariant Identifiers: chr2:g.179482926C>T (hg19) ; chr2:g.178618199C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39555G>A (TTN)	ENSP00000343764.6:p.Arg13185=
ENST00000342175.11:c.20640G>A (TTN)	ENSP00000340554.6:p.Arg6880=
ENST00000359218.10:c.20439G>A (TTN)	ENSP00000352154.5:p.Arg6813=
ENST00000342175.10:c.20640G>A (TTN)	ENSP00000340554.6:p.Arg6880=
ENST00000342992.10:c.39555G>A (TTN)	ENSP00000343764.6:p.Arg13185=
ENST00000359218.9:c.20439G>A (TTN)	ENSP00000352154.5:p.Arg6813=
ENST00000460472.6:c.20064G>A (TTN)	ENSP00000434586.1:p.Arg6688=
ENST00000589042.5:c.47259G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg15753=
ENST00000591111.5:c.42336G>A (TTN)	ENSP00000465570.1:p.Arg14112=
ENST00000615779.4:c.42336G>A (TTN)	ENSP00000483597.1:p.Arg14112=
NM_001256850.1:c.42336G>A (TTN)	NP_001243779.1:p.Arg14112=
NM_001267550.2:c.47259G>A (TTN) MANE Select	NP_001254479.2:p.Arg15753=
NM_003319.4:c.20064G>A (TTN)	NP_003310.4:p.Arg6688=
NM_133378.4:c.39555G>A (TTN)	NP_596869.4:p.Arg13185=
NM_133432.3:c.20439G>A (TTN)	NP_597676.3:p.Arg6813=
NM_133437.4:c.20640G>A (TTN)	NP_597681.4:p.Arg6880=
NR_038271.1:n.1605-1554C>T (TTN-AS1)
XM_011511729.1:c.46356G>A (TTN)	XP_011510031.1:p.Arg15452=
XM_011511730.1:c.20250G>A (TTN)	XP_011510032.1:p.Arg6750=
XM_011511731.1:c.20109G>A (TTN)	XP_011510033.1:p.Arg6703=
XM_017004819.1:c.46152G>A (TTN)	XP_016860308.1:p.Arg15384=
XM_017004820.1:c.41550G>A (TTN)	XP_016860309.1:p.Arg13850=
XM_017004821.1:c.41547G>A (TTN)	XP_016860310.1:p.Arg13849=
XM_017004822.1:c.38589G>A (TTN)	XP_016860311.1:p.Arg12863=
XM_017004823.1:c.20205G>A (TTN)	XP_016860312.1:p.Arg6735=
XM_024453094.1:c.41700G>A (TTN)	XP_024308862.1:p.Arg13900=
XM_024453095.1:c.41697G>A (TTN)	XP_024308863.1:p.Arg13899=
XM_024453096.1:c.41130G>A (TTN)	XP_024308864.1:p.Arg13710=
XM_024453097.1:c.38472G>A (TTN)	XP_024308865.1:p.Arg12824=
XM_024453098.1:c.38391G>A (TTN)	XP_024308866.1:p.Arg12797=
XM_024453099.1:c.20154G>A (TTN)	XP_024308867.1:p.Arg6718=
XM_024453100.1:c.10008G>A (TTN)	XP_024308868.1:p.Arg3336=