Canonical Allele Identifier: CA349471548

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411491C>G (hg19) ; chr2:g.178546764C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546764C>G , CM000664.2:g.178546764C>G	GRCh38
NC_000002.11:g.179411491C>G , CM000664.1:g.179411491C>G	GRCh37
NC_000002.10:g.179119737C>G	NCBI36
NG_011618.3:g.289039G>C , LRG_391:g.289039G>C
NG_051363.1:g.28938C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86960G>C (TTN)	ENSP00000343764.6:p.Arg28987Pro
ENST00000342175.11:c.68045G>C (TTN)	ENSP00000340554.6:p.Arg22682Pro
ENST00000359218.10:c.67844G>C (TTN)	ENSP00000352154.5:p.Arg22615Pro
ENST00000342175.10:c.68045G>C (TTN)	ENSP00000340554.6:p.Arg22682Pro
ENST00000342992.10:c.86960G>C (TTN)	ENSP00000343764.6:p.Arg28987Pro
ENST00000359218.9:c.67844G>C (TTN)	ENSP00000352154.5:p.Arg22615Pro
ENST00000460472.6:c.67469G>C (TTN)	ENSP00000434586.1:p.Arg22490Pro
ENST00000589042.5:c.94664G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg31555Pro
ENST00000591111.5:c.89741G>C (TTN)	ENSP00000465570.1:p.Arg29914Pro
ENST00000615779.4:c.89741G>C (TTN)	ENSP00000483597.1:p.Arg29914Pro
NM_001256850.1:c.89741G>C (TTN)	NP_001243779.1:p.Arg29914Pro
NM_001267550.2:c.94664G>C (TTN) MANE Select	NP_001254479.2:p.Arg31555Pro
NM_003319.4:c.67469G>C (TTN)	NP_003310.4:p.Arg22490Pro
NM_133378.4:c.86960G>C (TTN)	NP_596869.4:p.Arg28987Pro
NM_133432.3:c.67844G>C (TTN)	NP_597676.3:p.Arg22615Pro
NM_133437.4:c.68045G>C (TTN)	NP_597681.4:p.Arg22682Pro
NR_038271.1:n.446+23128C>G (TTN-AS1)
NR_038272.1:n.2043+4403C>G (TTN-AS1)
XM_011511729.1:c.93761G>C (TTN)	XP_011510031.1:p.Arg31254Pro
XM_011511730.1:c.67655G>C (TTN)	XP_011510032.1:p.Arg22552Pro
XM_011511731.1:c.67514G>C (TTN)	XP_011510033.1:p.Arg22505Pro
XM_017004819.1:c.93557G>C (TTN)	XP_016860308.1:p.Arg31186Pro
XM_017004820.1:c.88955G>C (TTN)	XP_016860309.1:p.Arg29652Pro
XM_017004821.1:c.88952G>C (TTN)	XP_016860310.1:p.Arg29651Pro
XM_017004822.1:c.85994G>C (TTN)	XP_016860311.1:p.Arg28665Pro
XM_017004823.1:c.67610G>C (TTN)	XP_016860312.1:p.Arg22537Pro
XM_024453094.1:c.89105G>C (TTN)	XP_024308862.1:p.Arg29702Pro
XM_024453095.1:c.89102G>C (TTN)	XP_024308863.1:p.Arg29701Pro
XM_024453096.1:c.88535G>C (TTN)	XP_024308864.1:p.Arg29512Pro
XM_024453097.1:c.85877G>C (TTN)	XP_024308865.1:p.Arg28626Pro
XM_024453098.1:c.85796G>C (TTN)	XP_024308866.1:p.Arg28599Pro
XM_024453099.1:c.67559G>C (TTN)	XP_024308867.1:p.Arg22520Pro
XM_024453100.1:c.57413G>C (TTN)	XP_024308868.1:p.Arg19138Pro