Canonical Allele Identifier: CA349405987

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394999C>A (hg19) ; chr2:g.178530272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530272C>A , CM000664.2:g.178530272C>A	GRCh38
NC_000002.11:g.179394999C>A , CM000664.1:g.179394999C>A	GRCh37
NC_000002.10:g.179103245C>A	NCBI36
NG_011618.3:g.305531G>T , LRG_391:g.305531G>T
NG_051363.1:g.12446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98639G>T (TTN)	ENSP00000343764.6:p.Arg32880Leu
ENST00000342175.11:c.79724G>T (TTN)	ENSP00000340554.6:p.Arg26575Leu
ENST00000359218.10:c.79523G>T (TTN)	ENSP00000352154.5:p.Arg26508Leu
ENST00000342175.10:c.79724G>T (TTN)	ENSP00000340554.6:p.Arg26575Leu
ENST00000342992.10:c.98639G>T (TTN)	ENSP00000343764.6:p.Arg32880Leu
ENST00000359218.9:c.79523G>T (TTN)	ENSP00000352154.5:p.Arg26508Leu
ENST00000460472.6:c.79148G>T (TTN)	ENSP00000434586.1:p.Arg26383Leu
ENST00000589042.5:c.106343G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg35448Leu
ENST00000591111.5:c.101420G>T (TTN)	ENSP00000465570.1:p.Arg33807Leu
ENST00000615779.4:c.101420G>T (TTN)	ENSP00000483597.1:p.Arg33807Leu
NM_001256850.1:c.101420G>T (TTN)	NP_001243779.1:p.Arg33807Leu
NM_001267550.2:c.106343G>T (TTN) MANE Select	NP_001254479.2:p.Arg35448Leu
NM_003319.4:c.79148G>T (TTN)	NP_003310.4:p.Arg26383Leu
NM_133378.4:c.98639G>T (TTN)	NP_596869.4:p.Arg32880Leu
NM_133432.3:c.79523G>T (TTN)	NP_597676.3:p.Arg26508Leu
NM_133437.4:c.79724G>T (TTN)	NP_597681.4:p.Arg26575Leu
NR_038271.1:n.446+6636C>A (TTN-AS1)
NR_038272.1:n.220-5460C>A (TTN-AS1)
XM_011511729.1:c.105440G>T (TTN)	XP_011510031.1:p.Arg35147Leu
XM_011511730.1:c.79334G>T (TTN)	XP_011510032.1:p.Arg26445Leu
XM_011511731.1:c.79193G>T (TTN)	XP_011510033.1:p.Arg26398Leu
XM_017004819.1:c.105236G>T (TTN)	XP_016860308.1:p.Arg35079Leu
XM_017004820.1:c.100634G>T (TTN)	XP_016860309.1:p.Arg33545Leu
XM_017004821.1:c.100631G>T (TTN)	XP_016860310.1:p.Arg33544Leu
XM_017004822.1:c.97673G>T (TTN)	XP_016860311.1:p.Arg32558Leu
XM_017004823.1:c.79289G>T (TTN)	XP_016860312.1:p.Arg26430Leu
XM_024453094.1:c.100784G>T (TTN)	XP_024308862.1:p.Arg33595Leu
XM_024453095.1:c.100781G>T (TTN)	XP_024308863.1:p.Arg33594Leu
XM_024453096.1:c.100214G>T (TTN)	XP_024308864.1:p.Arg33405Leu
XM_024453097.1:c.97556G>T (TTN)	XP_024308865.1:p.Arg32519Leu
XM_024453098.1:c.97475G>T (TTN)	XP_024308866.1:p.Arg32492Leu
XM_024453099.1:c.79238G>T (TTN)	XP_024308867.1:p.Arg26413Leu
XM_024453100.1:c.69092G>T (TTN)	XP_024308868.1:p.Arg23031Leu