Canonical Allele Identifier: CA349541938

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466445T>G (hg19) ; chr2:g.178601718T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601718T>G , CM000664.2:g.178601718T>G	GRCh38
NC_000002.11:g.179466445T>G , CM000664.1:g.179466445T>G	GRCh37
NC_000002.10:g.179174690T>G	NCBI36
NG_011618.3:g.234085A>C , LRG_391:g.234085A>C
NG_051363.1:g.83892T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.47668A>C (TTN)	ENSP00000343764.6:p.Ser15890Arg
ENST00000342175.11:c.28753A>C (TTN)	ENSP00000340554.6:p.Ser9585Arg
ENST00000359218.10:c.28552A>C (TTN)	ENSP00000352154.5:p.Ser9518Arg
ENST00000342175.10:c.28753A>C (TTN)	ENSP00000340554.6:p.Ser9585Arg
ENST00000342992.10:c.47668A>C (TTN)	ENSP00000343764.6:p.Ser15890Arg
ENST00000359218.9:c.28552A>C (TTN)	ENSP00000352154.5:p.Ser9518Arg
ENST00000460472.6:c.28177A>C (TTN)	ENSP00000434586.1:p.Ser9393Arg
ENST00000589042.5:c.55372A>C (TTN) MANE Select	ENSP00000467141.1:p.Ser18458Arg
ENST00000591111.5:c.50449A>C (TTN)	ENSP00000465570.1:p.Ser16817Arg
ENST00000615779.4:c.50449A>C (TTN)	ENSP00000483597.1:p.Ser16817Arg
NM_001256850.1:c.50449A>C (TTN)	NP_001243779.1:p.Ser16817Arg
NM_001267550.2:c.55372A>C (TTN) MANE Select	NP_001254479.2:p.Ser18458Arg
NM_003319.4:c.28177A>C (TTN)	NP_003310.4:p.Ser9393Arg
NM_133378.4:c.47668A>C (TTN)	NP_596869.4:p.Ser15890Arg
NM_133432.3:c.28552A>C (TTN)	NP_597676.3:p.Ser9518Arg
NM_133437.4:c.28753A>C (TTN)	NP_597681.4:p.Ser9585Arg
NR_038271.1:n.682+4037T>G (TTN-AS1)
NR_038272.1:n.3917+1051T>G (TTN-AS1)
XM_011511729.1:c.54469A>C (TTN)	XP_011510031.1:p.Ser18157Arg
XM_011511730.1:c.28363A>C (TTN)	XP_011510032.1:p.Ser9455Arg
XM_011511731.1:c.28222A>C (TTN)	XP_011510033.1:p.Ser9408Arg
XM_017004819.1:c.54265A>C (TTN)	XP_016860308.1:p.Ser18089Arg
XM_017004820.1:c.49663A>C (TTN)	XP_016860309.1:p.Ser16555Arg
XM_017004821.1:c.49660A>C (TTN)	XP_016860310.1:p.Ser16554Arg
XM_017004822.1:c.46702A>C (TTN)	XP_016860311.1:p.Ser15568Arg
XM_017004823.1:c.28318A>C (TTN)	XP_016860312.1:p.Ser9440Arg
XM_024453094.1:c.49813A>C (TTN)	XP_024308862.1:p.Ser16605Arg
XM_024453095.1:c.49810A>C (TTN)	XP_024308863.1:p.Ser16604Arg
XM_024453096.1:c.49243A>C (TTN)	XP_024308864.1:p.Ser16415Arg
XM_024453097.1:c.46585A>C (TTN)	XP_024308865.1:p.Ser15529Arg
XM_024453098.1:c.46504A>C (TTN)	XP_024308866.1:p.Ser15502Arg
XM_024453099.1:c.28267A>C (TTN)	XP_024308867.1:p.Ser9423Arg
XM_024453100.1:c.18121A>C (TTN)	XP_024308868.1:p.Ser6041Arg