Canonical Allele Identifier: CA349407241

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395338T>A (hg19) ; chr2:g.178530611T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530611T>A , CM000664.2:g.178530611T>A	GRCh38
NC_000002.11:g.179395338T>A , CM000664.1:g.179395338T>A	GRCh37
NC_000002.10:g.179103584T>A	NCBI36
NG_011618.3:g.305192A>T , LRG_391:g.305192A>T
NG_051363.1:g.12785T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98300A>T (TTN)	ENSP00000343764.6:p.His32767Leu
ENST00000342175.11:c.79385A>T (TTN)	ENSP00000340554.6:p.His26462Leu
ENST00000359218.10:c.79184A>T (TTN)	ENSP00000352154.5:p.His26395Leu
ENST00000342175.10:c.79385A>T (TTN)	ENSP00000340554.6:p.His26462Leu
ENST00000342992.10:c.98300A>T (TTN)	ENSP00000343764.6:p.His32767Leu
ENST00000359218.9:c.79184A>T (TTN)	ENSP00000352154.5:p.His26395Leu
ENST00000460472.6:c.78809A>T (TTN)	ENSP00000434586.1:p.His26270Leu
ENST00000589042.5:c.106004A>T (TTN) MANE Select	ENSP00000467141.1:p.His35335Leu
ENST00000591111.5:c.101081A>T (TTN)	ENSP00000465570.1:p.His33694Leu
ENST00000615779.4:c.101081A>T (TTN)	ENSP00000483597.1:p.His33694Leu
NM_001256850.1:c.101081A>T (TTN)	NP_001243779.1:p.His33694Leu
NM_001267550.2:c.106004A>T (TTN) MANE Select	NP_001254479.2:p.His35335Leu
NM_003319.4:c.78809A>T (TTN)	NP_003310.4:p.His26270Leu
NM_133378.4:c.98300A>T (TTN)	NP_596869.4:p.His32767Leu
NM_133432.3:c.79184A>T (TTN)	NP_597676.3:p.His26395Leu
NM_133437.4:c.79385A>T (TTN)	NP_597681.4:p.His26462Leu
NR_038271.1:n.446+6975T>A (TTN-AS1)
NR_038272.1:n.220-5121T>A (TTN-AS1)
XM_011511729.1:c.105101A>T (TTN)	XP_011510031.1:p.His35034Leu
XM_011511730.1:c.78995A>T (TTN)	XP_011510032.1:p.His26332Leu
XM_011511731.1:c.78854A>T (TTN)	XP_011510033.1:p.His26285Leu
XM_017004819.1:c.104897A>T (TTN)	XP_016860308.1:p.His34966Leu
XM_017004820.1:c.100295A>T (TTN)	XP_016860309.1:p.His33432Leu
XM_017004821.1:c.100292A>T (TTN)	XP_016860310.1:p.His33431Leu
XM_017004822.1:c.97334A>T (TTN)	XP_016860311.1:p.His32445Leu
XM_017004823.1:c.78950A>T (TTN)	XP_016860312.1:p.His26317Leu
XM_024453094.1:c.100445A>T (TTN)	XP_024308862.1:p.His33482Leu
XM_024453095.1:c.100442A>T (TTN)	XP_024308863.1:p.His33481Leu
XM_024453096.1:c.99875A>T (TTN)	XP_024308864.1:p.His33292Leu
XM_024453097.1:c.97217A>T (TTN)	XP_024308865.1:p.His32406Leu
XM_024453098.1:c.97136A>T (TTN)	XP_024308866.1:p.His32379Leu
XM_024453099.1:c.78899A>T (TTN)	XP_024308867.1:p.His26300Leu
XM_024453100.1:c.68753A>T (TTN)	XP_024308868.1:p.His22918Leu