Canonical Allele Identifier: CA349488667

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456705G>C (hg19) ; chr2:g.178591978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591978G>C , CM000664.2:g.178591978G>C	GRCh38
NC_000002.11:g.179456705G>C , CM000664.1:g.179456705G>C	GRCh37
NC_000002.10:g.179164951G>C	NCBI36
NG_011618.3:g.243825C>G , LRG_391:g.243825C>G
NG_051363.1:g.74152G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52222C>G (TTN)	ENSP00000343764.6:p.His17408Asp
ENST00000342175.11:c.33307C>G (TTN)	ENSP00000340554.6:p.His11103Asp
ENST00000359218.10:c.33106C>G (TTN)	ENSP00000352154.5:p.His11036Asp
ENST00000342175.10:c.33307C>G (TTN)	ENSP00000340554.6:p.His11103Asp
ENST00000342992.10:c.52222C>G (TTN)	ENSP00000343764.6:p.His17408Asp
ENST00000359218.9:c.33106C>G (TTN)	ENSP00000352154.5:p.His11036Asp
ENST00000460472.6:c.32731C>G (TTN)	ENSP00000434586.1:p.His10911Asp
ENST00000589042.5:c.59926C>G (TTN) MANE Select	ENSP00000467141.1:p.His19976Asp
ENST00000591111.5:c.55003C>G (TTN)	ENSP00000465570.1:p.His18335Asp
ENST00000615779.4:c.55003C>G (TTN)	ENSP00000483597.1:p.His18335Asp
NM_001256850.1:c.55003C>G (TTN)	NP_001243779.1:p.His18335Asp
NM_001267550.2:c.59926C>G (TTN) MANE Select	NP_001254479.2:p.His19976Asp
NM_003319.4:c.32731C>G (TTN)	NP_003310.4:p.His10911Asp
NM_133378.4:c.52222C>G (TTN)	NP_596869.4:p.His17408Asp
NM_133432.3:c.33106C>G (TTN)	NP_597676.3:p.His11036Asp
NM_133437.4:c.33307C>G (TTN)	NP_597681.4:p.His11103Asp
NR_038271.1:n.597-5618G>C (TTN-AS1)
NR_038272.1:n.3364+664G>C (TTN-AS1)
XM_011511729.1:c.59023C>G (TTN)	XP_011510031.1:p.His19675Asp
XM_011511730.1:c.32917C>G (TTN)	XP_011510032.1:p.His10973Asp
XM_011511731.1:c.32776C>G (TTN)	XP_011510033.1:p.His10926Asp
XM_017004819.1:c.58819C>G (TTN)	XP_016860308.1:p.His19607Asp
XM_017004820.1:c.54217C>G (TTN)	XP_016860309.1:p.His18073Asp
XM_017004821.1:c.54214C>G (TTN)	XP_016860310.1:p.His18072Asp
XM_017004822.1:c.51256C>G (TTN)	XP_016860311.1:p.His17086Asp
XM_017004823.1:c.32872C>G (TTN)	XP_016860312.1:p.His10958Asp
XM_024453094.1:c.54367C>G (TTN)	XP_024308862.1:p.His18123Asp
XM_024453095.1:c.54364C>G (TTN)	XP_024308863.1:p.His18122Asp
XM_024453096.1:c.53797C>G (TTN)	XP_024308864.1:p.His17933Asp
XM_024453097.1:c.51139C>G (TTN)	XP_024308865.1:p.His17047Asp
XM_024453098.1:c.51058C>G (TTN)	XP_024308866.1:p.His17020Asp
XM_024453099.1:c.32821C>G (TTN)	XP_024308867.1:p.His10941Asp
XM_024453100.1:c.22675C>G (TTN)	XP_024308868.1:p.His7559Asp