Canonical Allele Identifier: CA349495742

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414522C>G (hg19) ; chr2:g.178549795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549795C>G , CM000664.2:g.178549795C>G	GRCh38
NC_000002.11:g.179414522C>G , CM000664.1:g.179414522C>G	GRCh37
NC_000002.10:g.179122768C>G	NCBI36
NG_011618.3:g.286008G>C , LRG_391:g.286008G>C
NG_051363.1:g.31969C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84223G>C (TTN)	ENSP00000343764.6:p.Ala28075Pro
ENST00000342175.11:c.65308G>C (TTN)	ENSP00000340554.6:p.Ala21770Pro
ENST00000359218.10:c.65107G>C (TTN)	ENSP00000352154.5:p.Ala21703Pro
ENST00000342175.10:c.65308G>C (TTN)	ENSP00000340554.6:p.Ala21770Pro
ENST00000342992.10:c.84223G>C (TTN)	ENSP00000343764.6:p.Ala28075Pro
ENST00000359218.9:c.65107G>C (TTN)	ENSP00000352154.5:p.Ala21703Pro
ENST00000460472.6:c.64732G>C (TTN)	ENSP00000434586.1:p.Ala21578Pro
ENST00000589042.5:c.91927G>C (TTN) MANE Select	ENSP00000467141.1:p.Ala30643Pro
ENST00000591111.5:c.87004G>C (TTN)	ENSP00000465570.1:p.Ala29002Pro
ENST00000615779.4:c.87004G>C (TTN)	ENSP00000483597.1:p.Ala29002Pro
NM_001256850.1:c.87004G>C (TTN)	NP_001243779.1:p.Ala29002Pro
NM_001267550.2:c.91927G>C (TTN) MANE Select	NP_001254479.2:p.Ala30643Pro
NM_003319.4:c.64732G>C (TTN)	NP_003310.4:p.Ala21578Pro
NM_133378.4:c.84223G>C (TTN)	NP_596869.4:p.Ala28075Pro
NM_133432.3:c.65107G>C (TTN)	NP_597676.3:p.Ala21703Pro
NM_133437.4:c.65308G>C (TTN)	NP_597681.4:p.Ala21770Pro
NR_038271.1:n.447-21505C>G (TTN-AS1)
NR_038272.1:n.2043+7434C>G (TTN-AS1)
XM_011511729.1:c.91024G>C (TTN)	XP_011510031.1:p.Ala30342Pro
XM_011511730.1:c.64918G>C (TTN)	XP_011510032.1:p.Ala21640Pro
XM_011511731.1:c.64777G>C (TTN)	XP_011510033.1:p.Ala21593Pro
XM_017004819.1:c.90820G>C (TTN)	XP_016860308.1:p.Ala30274Pro
XM_017004820.1:c.86218G>C (TTN)	XP_016860309.1:p.Ala28740Pro
XM_017004821.1:c.86215G>C (TTN)	XP_016860310.1:p.Ala28739Pro
XM_017004822.1:c.83257G>C (TTN)	XP_016860311.1:p.Ala27753Pro
XM_017004823.1:c.64873G>C (TTN)	XP_016860312.1:p.Ala21625Pro
XM_024453094.1:c.86368G>C (TTN)	XP_024308862.1:p.Ala28790Pro
XM_024453095.1:c.86365G>C (TTN)	XP_024308863.1:p.Ala28789Pro
XM_024453096.1:c.85798G>C (TTN)	XP_024308864.1:p.Ala28600Pro
XM_024453097.1:c.83140G>C (TTN)	XP_024308865.1:p.Ala27714Pro
XM_024453098.1:c.83059G>C (TTN)	XP_024308866.1:p.Ala27687Pro
XM_024453099.1:c.64822G>C (TTN)	XP_024308867.1:p.Ala21608Pro
XM_024453100.1:c.54676G>C (TTN)	XP_024308868.1:p.Ala18226Pro