Canonical Allele Identifier: CA349648614

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438770T>C (hg19) ; chr2:g.178574043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574043T>C , CM000664.2:g.178574043T>C	GRCh38
NC_000002.11:g.179438770T>C , CM000664.1:g.179438770T>C	GRCh37
NC_000002.10:g.179147016T>C	NCBI36
NG_011618.3:g.261760A>G , LRG_391:g.261760A>G
NG_051363.1:g.56217T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64385A>G (TTN)	ENSP00000343764.6:p.Lys21462Arg
ENST00000342175.11:c.45470A>G (TTN)	ENSP00000340554.6:p.Lys15157Arg
ENST00000359218.10:c.45269A>G (TTN)	ENSP00000352154.5:p.Lys15090Arg
ENST00000342175.10:c.45470A>G (TTN)	ENSP00000340554.6:p.Lys15157Arg
ENST00000342992.10:c.64385A>G (TTN)	ENSP00000343764.6:p.Lys21462Arg
ENST00000359218.9:c.45269A>G (TTN)	ENSP00000352154.5:p.Lys15090Arg
ENST00000460472.6:c.44894A>G (TTN)	ENSP00000434586.1:p.Lys14965Arg
ENST00000589042.5:c.72089A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys24030Arg
ENST00000591111.5:c.67166A>G (TTN)	ENSP00000465570.1:p.Lys22389Arg
ENST00000615779.4:c.67166A>G (TTN)	ENSP00000483597.1:p.Lys22389Arg
NM_001256850.1:c.67166A>G (TTN)	NP_001243779.1:p.Lys22389Arg
NM_001267550.2:c.72089A>G (TTN) MANE Select	NP_001254479.2:p.Lys24030Arg
NM_003319.4:c.44894A>G (TTN)	NP_003310.4:p.Lys14965Arg
NM_133378.4:c.64385A>G (TTN)	NP_596869.4:p.Lys21462Arg
NM_133432.3:c.45269A>G (TTN)	NP_597676.3:p.Lys15090Arg
NM_133437.4:c.45470A>G (TTN)	NP_597681.4:p.Lys15157Arg
NR_038271.1:n.596+2594T>C (TTN-AS1)
NR_038272.1:n.2044-8529T>C (TTN-AS1)
XM_011511729.1:c.71186A>G (TTN)	XP_011510031.1:p.Lys23729Arg
XM_011511730.1:c.45080A>G (TTN)	XP_011510032.1:p.Lys15027Arg
XM_011511731.1:c.44939A>G (TTN)	XP_011510033.1:p.Lys14980Arg
XM_017004819.1:c.70982A>G (TTN)	XP_016860308.1:p.Lys23661Arg
XM_017004820.1:c.66380A>G (TTN)	XP_016860309.1:p.Lys22127Arg
XM_017004821.1:c.66377A>G (TTN)	XP_016860310.1:p.Lys22126Arg
XM_017004822.1:c.63419A>G (TTN)	XP_016860311.1:p.Lys21140Arg
XM_017004823.1:c.45035A>G (TTN)	XP_016860312.1:p.Lys15012Arg
XM_024453094.1:c.66530A>G (TTN)	XP_024308862.1:p.Lys22177Arg
XM_024453095.1:c.66527A>G (TTN)	XP_024308863.1:p.Lys22176Arg
XM_024453096.1:c.65960A>G (TTN)	XP_024308864.1:p.Lys21987Arg
XM_024453097.1:c.63302A>G (TTN)	XP_024308865.1:p.Lys21101Arg
XM_024453098.1:c.63221A>G (TTN)	XP_024308866.1:p.Lys21074Arg
XM_024453099.1:c.44984A>G (TTN)	XP_024308867.1:p.Lys14995Arg
XM_024453100.1:c.34838A>G (TTN)	XP_024308868.1:p.Lys11613Arg