Canonical Allele Identifier: CA349406852

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395180T>G (hg19) ; chr2:g.178530453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530453T>G , CM000664.2:g.178530453T>G	GRCh38
NC_000002.11:g.179395180T>G , CM000664.1:g.179395180T>G	GRCh37
NC_000002.10:g.179103426T>G	NCBI36
NG_011618.3:g.305350A>C , LRG_391:g.305350A>C
NG_051363.1:g.12627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98458A>C (TTN)	ENSP00000343764.6:p.Lys32820Gln
ENST00000342175.11:c.79543A>C (TTN)	ENSP00000340554.6:p.Lys26515Gln
ENST00000359218.10:c.79342A>C (TTN)	ENSP00000352154.5:p.Lys26448Gln
ENST00000342175.10:c.79543A>C (TTN)	ENSP00000340554.6:p.Lys26515Gln
ENST00000342992.10:c.98458A>C (TTN)	ENSP00000343764.6:p.Lys32820Gln
ENST00000359218.9:c.79342A>C (TTN)	ENSP00000352154.5:p.Lys26448Gln
ENST00000460472.6:c.78967A>C (TTN)	ENSP00000434586.1:p.Lys26323Gln
ENST00000589042.5:c.106162A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys35388Gln
ENST00000591111.5:c.101239A>C (TTN)	ENSP00000465570.1:p.Lys33747Gln
ENST00000615779.4:c.101239A>C (TTN)	ENSP00000483597.1:p.Lys33747Gln
NM_001256850.1:c.101239A>C (TTN)	NP_001243779.1:p.Lys33747Gln
NM_001267550.2:c.106162A>C (TTN) MANE Select	NP_001254479.2:p.Lys35388Gln
NM_003319.4:c.78967A>C (TTN)	NP_003310.4:p.Lys26323Gln
NM_133378.4:c.98458A>C (TTN)	NP_596869.4:p.Lys32820Gln
NM_133432.3:c.79342A>C (TTN)	NP_597676.3:p.Lys26448Gln
NM_133437.4:c.79543A>C (TTN)	NP_597681.4:p.Lys26515Gln
NR_038271.1:n.446+6817T>G (TTN-AS1)
NR_038272.1:n.220-5279T>G (TTN-AS1)
XM_011511729.1:c.105259A>C (TTN)	XP_011510031.1:p.Lys35087Gln
XM_011511730.1:c.79153A>C (TTN)	XP_011510032.1:p.Lys26385Gln
XM_011511731.1:c.79012A>C (TTN)	XP_011510033.1:p.Lys26338Gln
XM_017004819.1:c.105055A>C (TTN)	XP_016860308.1:p.Lys35019Gln
XM_017004820.1:c.100453A>C (TTN)	XP_016860309.1:p.Lys33485Gln
XM_017004821.1:c.100450A>C (TTN)	XP_016860310.1:p.Lys33484Gln
XM_017004822.1:c.97492A>C (TTN)	XP_016860311.1:p.Lys32498Gln
XM_017004823.1:c.79108A>C (TTN)	XP_016860312.1:p.Lys26370Gln
XM_024453094.1:c.100603A>C (TTN)	XP_024308862.1:p.Lys33535Gln
XM_024453095.1:c.100600A>C (TTN)	XP_024308863.1:p.Lys33534Gln
XM_024453096.1:c.100033A>C (TTN)	XP_024308864.1:p.Lys33345Gln
XM_024453097.1:c.97375A>C (TTN)	XP_024308865.1:p.Lys32459Gln
XM_024453098.1:c.97294A>C (TTN)	XP_024308866.1:p.Lys32432Gln
XM_024453099.1:c.79057A>C (TTN)	XP_024308867.1:p.Lys26353Gln
XM_024453100.1:c.68911A>C (TTN)	XP_024308868.1:p.Lys22971Gln