Canonical Allele Identifier: CA349510798

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417195T>G (hg19) ; chr2:g.178552468T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552468T>G , CM000664.2:g.178552468T>G	GRCh38
NC_000002.11:g.179417195T>G , CM000664.1:g.179417195T>G	GRCh37
NC_000002.10:g.179125441T>G	NCBI36
NG_011618.3:g.283335A>C , LRG_391:g.283335A>C
NG_051363.1:g.34642T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.82728A>C (TTN)	ENSP00000343764.6:p.Arg27576Ser
ENST00000342175.11:c.63813A>C (TTN)	ENSP00000340554.6:p.Arg21271Ser
ENST00000359218.10:c.63612A>C (TTN)	ENSP00000352154.5:p.Arg21204Ser
ENST00000342175.10:c.63813A>C (TTN)	ENSP00000340554.6:p.Arg21271Ser
ENST00000342992.10:c.82728A>C (TTN)	ENSP00000343764.6:p.Arg27576Ser
ENST00000359218.9:c.63612A>C (TTN)	ENSP00000352154.5:p.Arg21204Ser
ENST00000460472.6:c.63237A>C (TTN)	ENSP00000434586.1:p.Arg21079Ser
ENST00000589042.5:c.90432A>C (TTN) MANE Select	ENSP00000467141.1:p.Arg30144Ser
ENST00000591111.5:c.85509A>C (TTN)	ENSP00000465570.1:p.Arg28503Ser
ENST00000615779.4:c.85509A>C (TTN)	ENSP00000483597.1:p.Arg28503Ser
NM_001256850.1:c.85509A>C (TTN)	NP_001243779.1:p.Arg28503Ser
NM_001267550.2:c.90432A>C (TTN) MANE Select	NP_001254479.2:p.Arg30144Ser
NM_003319.4:c.63237A>C (TTN)	NP_003310.4:p.Arg21079Ser
NM_133378.4:c.82728A>C (TTN)	NP_596869.4:p.Arg27576Ser
NM_133432.3:c.63612A>C (TTN)	NP_597676.3:p.Arg21204Ser
NM_133437.4:c.63813A>C (TTN)	NP_597681.4:p.Arg21271Ser
NR_038271.1:n.447-18832T>G (TTN-AS1)
NR_038272.1:n.2043+10107T>G (TTN-AS1)
XM_011511729.1:c.89529A>C (TTN)	XP_011510031.1:p.Arg29843Ser
XM_011511730.1:c.63423A>C (TTN)	XP_011510032.1:p.Arg21141Ser
XM_011511731.1:c.63282A>C (TTN)	XP_011510033.1:p.Arg21094Ser
XM_017004819.1:c.89325A>C (TTN)	XP_016860308.1:p.Arg29775Ser
XM_017004820.1:c.84723A>C (TTN)	XP_016860309.1:p.Arg28241Ser
XM_017004821.1:c.84720A>C (TTN)	XP_016860310.1:p.Arg28240Ser
XM_017004822.1:c.81762A>C (TTN)	XP_016860311.1:p.Arg27254Ser
XM_017004823.1:c.63378A>C (TTN)	XP_016860312.1:p.Arg21126Ser
XM_024453094.1:c.84873A>C (TTN)	XP_024308862.1:p.Arg28291Ser
XM_024453095.1:c.84870A>C (TTN)	XP_024308863.1:p.Arg28290Ser
XM_024453096.1:c.84303A>C (TTN)	XP_024308864.1:p.Arg28101Ser
XM_024453097.1:c.81645A>C (TTN)	XP_024308865.1:p.Arg27215Ser
XM_024453098.1:c.81564A>C (TTN)	XP_024308866.1:p.Arg27188Ser
XM_024453099.1:c.63327A>C (TTN)	XP_024308867.1:p.Arg21109Ser
XM_024453100.1:c.53181A>C (TTN)	XP_024308868.1:p.Arg17727Ser