Canonical Allele Identifier: CA349451289

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543935-A-C
• MyVariant Identifiers: chr2:g.179408662A>C (hg19) ; chr2:g.178543935A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543935A>C , CM000664.2:g.178543935A>C	GRCh38
NC_000002.11:g.179408662A>C , CM000664.1:g.179408662A>C	GRCh37
NC_000002.10:g.179116908A>C	NCBI36
NG_011618.3:g.291868T>G , LRG_391:g.291868T>G
NG_051363.1:g.26109A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88505T>G (TTN)	ENSP00000343764.6:p.Leu29502Arg
ENST00000342175.11:c.69590T>G (TTN)	ENSP00000340554.6:p.Leu23197Arg
ENST00000359218.10:c.69389T>G (TTN)	ENSP00000352154.5:p.Leu23130Arg
ENST00000342175.10:c.69590T>G (TTN)	ENSP00000340554.6:p.Leu23197Arg
ENST00000342992.10:c.88505T>G (TTN)	ENSP00000343764.6:p.Leu29502Arg
ENST00000359218.9:c.69389T>G (TTN)	ENSP00000352154.5:p.Leu23130Arg
ENST00000460472.6:c.69014T>G (TTN)	ENSP00000434586.1:p.Leu23005Arg
ENST00000589042.5:c.96209T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32070Arg
ENST00000591111.5:c.91286T>G (TTN)	ENSP00000465570.1:p.Leu30429Arg
ENST00000615779.4:c.91286T>G (TTN)	ENSP00000483597.1:p.Leu30429Arg
NM_001256850.1:c.91286T>G (TTN)	NP_001243779.1:p.Leu30429Arg
NM_001267550.2:c.96209T>G (TTN) MANE Select	NP_001254479.2:p.Leu32070Arg
NM_003319.4:c.69014T>G (TTN)	NP_003310.4:p.Leu23005Arg
NM_133378.4:c.88505T>G (TTN)	NP_596869.4:p.Leu29502Arg
NM_133432.3:c.69389T>G (TTN)	NP_597676.3:p.Leu23130Arg
NM_133437.4:c.69590T>G (TTN)	NP_597681.4:p.Leu23197Arg
NR_038271.1:n.446+20299A>C (TTN-AS1)
NR_038272.1:n.2043+1574A>C (TTN-AS1)
XM_011511729.1:c.95306T>G (TTN)	XP_011510031.1:p.Leu31769Arg
XM_011511730.1:c.69200T>G (TTN)	XP_011510032.1:p.Leu23067Arg
XM_011511731.1:c.69059T>G (TTN)	XP_011510033.1:p.Leu23020Arg
XM_017004819.1:c.95102T>G (TTN)	XP_016860308.1:p.Leu31701Arg
XM_017004820.1:c.90500T>G (TTN)	XP_016860309.1:p.Leu30167Arg
XM_017004821.1:c.90497T>G (TTN)	XP_016860310.1:p.Leu30166Arg
XM_017004822.1:c.87539T>G (TTN)	XP_016860311.1:p.Leu29180Arg
XM_017004823.1:c.69155T>G (TTN)	XP_016860312.1:p.Leu23052Arg
XM_024453094.1:c.90650T>G (TTN)	XP_024308862.1:p.Leu30217Arg
XM_024453095.1:c.90647T>G (TTN)	XP_024308863.1:p.Leu30216Arg
XM_024453096.1:c.90080T>G (TTN)	XP_024308864.1:p.Leu30027Arg
XM_024453097.1:c.87422T>G (TTN)	XP_024308865.1:p.Leu29141Arg
XM_024453098.1:c.87341T>G (TTN)	XP_024308866.1:p.Leu29114Arg
XM_024453099.1:c.69104T>G (TTN)	XP_024308867.1:p.Leu23035Arg
XM_024453100.1:c.58958T>G (TTN)	XP_024308868.1:p.Leu19653Arg