Canonical Allele Identifier: CA349434723

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404670C>G (hg19) ; chr2:g.178539943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539943C>G , CM000664.2:g.178539943C>G	GRCh38
NC_000002.11:g.179404670C>G , CM000664.1:g.179404670C>G	GRCh37
NC_000002.10:g.179112916C>G	NCBI36
NG_011618.3:g.295860G>C , LRG_391:g.295860G>C
NG_051363.1:g.22117C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90418G>C (TTN)	ENSP00000343764.6:p.Glu30140Gln
ENST00000342175.11:c.71503G>C (TTN)	ENSP00000340554.6:p.Glu23835Gln
ENST00000359218.10:c.71302G>C (TTN)	ENSP00000352154.5:p.Glu23768Gln
ENST00000342175.10:c.71503G>C (TTN)	ENSP00000340554.6:p.Glu23835Gln
ENST00000342992.10:c.90418G>C (TTN)	ENSP00000343764.6:p.Glu30140Gln
ENST00000359218.9:c.71302G>C (TTN)	ENSP00000352154.5:p.Glu23768Gln
ENST00000460472.6:c.70927G>C (TTN)	ENSP00000434586.1:p.Glu23643Gln
ENST00000589042.5:c.98122G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32708Gln
ENST00000591111.5:c.93199G>C (TTN)	ENSP00000465570.1:p.Glu31067Gln
ENST00000615779.4:c.93199G>C (TTN)	ENSP00000483597.1:p.Glu31067Gln
NM_001256850.1:c.93199G>C (TTN)	NP_001243779.1:p.Glu31067Gln
NM_001267550.2:c.98122G>C (TTN) MANE Select	NP_001254479.2:p.Glu32708Gln
NM_003319.4:c.70927G>C (TTN)	NP_003310.4:p.Glu23643Gln
NM_133378.4:c.90418G>C (TTN)	NP_596869.4:p.Glu30140Gln
NM_133432.3:c.71302G>C (TTN)	NP_597676.3:p.Glu23768Gln
NM_133437.4:c.71503G>C (TTN)	NP_597681.4:p.Glu23835Gln
NR_038271.1:n.446+16307C>G (TTN-AS1)
NR_038272.1:n.1840+53C>G (TTN-AS1)
XM_011511729.1:c.97219G>C (TTN)	XP_011510031.1:p.Glu32407Gln
XM_011511730.1:c.71113G>C (TTN)	XP_011510032.1:p.Glu23705Gln
XM_011511731.1:c.70972G>C (TTN)	XP_011510033.1:p.Glu23658Gln
XM_017004819.1:c.97015G>C (TTN)	XP_016860308.1:p.Glu32339Gln
XM_017004820.1:c.92413G>C (TTN)	XP_016860309.1:p.Glu30805Gln
XM_017004821.1:c.92410G>C (TTN)	XP_016860310.1:p.Glu30804Gln
XM_017004822.1:c.89452G>C (TTN)	XP_016860311.1:p.Glu29818Gln
XM_017004823.1:c.71068G>C (TTN)	XP_016860312.1:p.Glu23690Gln
XM_024453094.1:c.92563G>C (TTN)	XP_024308862.1:p.Glu30855Gln
XM_024453095.1:c.92560G>C (TTN)	XP_024308863.1:p.Glu30854Gln
XM_024453096.1:c.91993G>C (TTN)	XP_024308864.1:p.Glu30665Gln
XM_024453097.1:c.89335G>C (TTN)	XP_024308865.1:p.Glu29779Gln
XM_024453098.1:c.89254G>C (TTN)	XP_024308866.1:p.Glu29752Gln
XM_024453099.1:c.71017G>C (TTN)	XP_024308867.1:p.Glu23673Gln
XM_024453100.1:c.60871G>C (TTN)	XP_024308868.1:p.Glu20291Gln