Canonical Allele Identifier: CA349496580

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457782T>G (hg19) ; chr2:g.178593055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593055T>G , CM000664.2:g.178593055T>G	GRCh38
NC_000002.11:g.179457782T>G , CM000664.1:g.179457782T>G	GRCh37
NC_000002.10:g.179166028T>G	NCBI36
NG_011618.3:g.242748A>C , LRG_391:g.242748A>C
NG_051363.1:g.75229T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51360A>C (TTN)	ENSP00000343764.6:p.Glu17120Asp
ENST00000342175.11:c.32445A>C (TTN)	ENSP00000340554.6:p.Glu10815Asp
ENST00000359218.10:c.32244A>C (TTN)	ENSP00000352154.5:p.Glu10748Asp
ENST00000342175.10:c.32445A>C (TTN)	ENSP00000340554.6:p.Glu10815Asp
ENST00000342992.10:c.51360A>C (TTN)	ENSP00000343764.6:p.Glu17120Asp
ENST00000359218.9:c.32244A>C (TTN)	ENSP00000352154.5:p.Glu10748Asp
ENST00000460472.6:c.31869A>C (TTN)	ENSP00000434586.1:p.Glu10623Asp
ENST00000589042.5:c.59064A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu19688Asp
ENST00000591111.5:c.54141A>C (TTN)	ENSP00000465570.1:p.Glu18047Asp
ENST00000615779.4:c.54141A>C (TTN)	ENSP00000483597.1:p.Glu18047Asp
NM_001256850.1:c.54141A>C (TTN)	NP_001243779.1:p.Glu18047Asp
NM_001267550.2:c.59064A>C (TTN) MANE Select	NP_001254479.2:p.Glu19688Asp
NM_003319.4:c.31869A>C (TTN)	NP_003310.4:p.Glu10623Asp
NM_133378.4:c.51360A>C (TTN)	NP_596869.4:p.Glu17120Asp
NM_133432.3:c.32244A>C (TTN)	NP_597676.3:p.Glu10748Asp
NM_133437.4:c.32445A>C (TTN)	NP_597681.4:p.Glu10815Asp
NR_038271.1:n.597-4541T>G (TTN-AS1)
NR_038272.1:n.3364+1741T>G (TTN-AS1)
XM_011511729.1:c.58161A>C (TTN)	XP_011510031.1:p.Glu19387Asp
XM_011511730.1:c.32055A>C (TTN)	XP_011510032.1:p.Glu10685Asp
XM_011511731.1:c.31914A>C (TTN)	XP_011510033.1:p.Glu10638Asp
XM_017004819.1:c.57957A>C (TTN)	XP_016860308.1:p.Glu19319Asp
XM_017004820.1:c.53355A>C (TTN)	XP_016860309.1:p.Glu17785Asp
XM_017004821.1:c.53352A>C (TTN)	XP_016860310.1:p.Glu17784Asp
XM_017004822.1:c.50394A>C (TTN)	XP_016860311.1:p.Glu16798Asp
XM_017004823.1:c.32010A>C (TTN)	XP_016860312.1:p.Glu10670Asp
XM_024453094.1:c.53505A>C (TTN)	XP_024308862.1:p.Glu17835Asp
XM_024453095.1:c.53502A>C (TTN)	XP_024308863.1:p.Glu17834Asp
XM_024453096.1:c.52935A>C (TTN)	XP_024308864.1:p.Glu17645Asp
XM_024453097.1:c.50277A>C (TTN)	XP_024308865.1:p.Glu16759Asp
XM_024453098.1:c.50196A>C (TTN)	XP_024308866.1:p.Glu16732Asp
XM_024453099.1:c.31959A>C (TTN)	XP_024308867.1:p.Glu10653Asp
XM_024453100.1:c.21813A>C (TTN)	XP_024308868.1:p.Glu7271Asp