Canonical Allele Identifier: CA349454367

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408830A>C (hg19) ; chr2:g.178544103A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544103A>C , CM000664.2:g.178544103A>C	GRCh38
NC_000002.11:g.179408830A>C , CM000664.1:g.179408830A>C	GRCh37
NC_000002.10:g.179117076A>C	NCBI36
NG_011618.3:g.291700T>G , LRG_391:g.291700T>G
NG_051363.1:g.26277A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88337T>G (TTN)	ENSP00000343764.6:p.Leu29446Arg
ENST00000342175.11:c.69422T>G (TTN)	ENSP00000340554.6:p.Leu23141Arg
ENST00000359218.10:c.69221T>G (TTN)	ENSP00000352154.5:p.Leu23074Arg
ENST00000342175.10:c.69422T>G (TTN)	ENSP00000340554.6:p.Leu23141Arg
ENST00000342992.10:c.88337T>G (TTN)	ENSP00000343764.6:p.Leu29446Arg
ENST00000359218.9:c.69221T>G (TTN)	ENSP00000352154.5:p.Leu23074Arg
ENST00000460472.6:c.68846T>G (TTN)	ENSP00000434586.1:p.Leu22949Arg
ENST00000589042.5:c.96041T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32014Arg
ENST00000591111.5:c.91118T>G (TTN)	ENSP00000465570.1:p.Leu30373Arg
ENST00000615779.4:c.91118T>G (TTN)	ENSP00000483597.1:p.Leu30373Arg
NM_001256850.1:c.91118T>G (TTN)	NP_001243779.1:p.Leu30373Arg
NM_001267550.2:c.96041T>G (TTN) MANE Select	NP_001254479.2:p.Leu32014Arg
NM_003319.4:c.68846T>G (TTN)	NP_003310.4:p.Leu22949Arg
NM_133378.4:c.88337T>G (TTN)	NP_596869.4:p.Leu29446Arg
NM_133432.3:c.69221T>G (TTN)	NP_597676.3:p.Leu23074Arg
NM_133437.4:c.69422T>G (TTN)	NP_597681.4:p.Leu23141Arg
NR_038271.1:n.446+20467A>C (TTN-AS1)
NR_038272.1:n.2043+1742A>C (TTN-AS1)
XM_011511729.1:c.95138T>G (TTN)	XP_011510031.1:p.Leu31713Arg
XM_011511730.1:c.69032T>G (TTN)	XP_011510032.1:p.Leu23011Arg
XM_011511731.1:c.68891T>G (TTN)	XP_011510033.1:p.Leu22964Arg
XM_017004819.1:c.94934T>G (TTN)	XP_016860308.1:p.Leu31645Arg
XM_017004820.1:c.90332T>G (TTN)	XP_016860309.1:p.Leu30111Arg
XM_017004821.1:c.90329T>G (TTN)	XP_016860310.1:p.Leu30110Arg
XM_017004822.1:c.87371T>G (TTN)	XP_016860311.1:p.Leu29124Arg
XM_017004823.1:c.68987T>G (TTN)	XP_016860312.1:p.Leu22996Arg
XM_024453094.1:c.90482T>G (TTN)	XP_024308862.1:p.Leu30161Arg
XM_024453095.1:c.90479T>G (TTN)	XP_024308863.1:p.Leu30160Arg
XM_024453096.1:c.89912T>G (TTN)	XP_024308864.1:p.Leu29971Arg
XM_024453097.1:c.87254T>G (TTN)	XP_024308865.1:p.Leu29085Arg
XM_024453098.1:c.87173T>G (TTN)	XP_024308866.1:p.Leu29058Arg
XM_024453099.1:c.68936T>G (TTN)	XP_024308867.1:p.Leu22979Arg
XM_024453100.1:c.58790T>G (TTN)	XP_024308868.1:p.Leu19597Arg