Canonical Allele Identifier: CA430249652

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427036T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562309T>C , CM000664.2:g.178562309T>C	GRCh38
NC_000002.11:g.179427036T>C , CM000664.1:g.179427036T>C	GRCh37
NC_000002.10:g.179135282T>C	NCBI36
NG_011618.3:g.273494A>G , LRG_391:g.273494A>G
NG_051363.1:g.44483T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76119A>G (TTN)	ENSP00000343764.6:p.Glu25373=
ENST00000342175.11:c.57204A>G (TTN)	ENSP00000340554.6:p.Glu19068=
ENST00000359218.10:c.57003A>G (TTN)	ENSP00000352154.5:p.Glu19001=
ENST00000342175.10:c.57204A>G (TTN)	ENSP00000340554.6:p.Glu19068=
ENST00000342992.10:c.76119A>G (TTN)	ENSP00000343764.6:p.Glu25373=
ENST00000359218.9:c.57003A>G (TTN)	ENSP00000352154.5:p.Glu19001=
ENST00000460472.6:c.56628A>G (TTN)	ENSP00000434586.1:p.Glu18876=
ENST00000589042.5:c.83823A>G (TTN) MANE Select	ENSP00000467141.1:p.Glu27941=
ENST00000591111.5:c.78900A>G (TTN)	ENSP00000465570.1:p.Glu26300=
ENST00000615779.4:c.78900A>G (TTN)	ENSP00000483597.1:p.Glu26300=
NM_001256850.1:c.78900A>G (TTN)	NP_001243779.1:p.Glu26300=
NM_001267550.2:c.83823A>G (TTN) MANE Select	NP_001254479.2:p.Glu27941=
NM_003319.4:c.56628A>G (TTN)	NP_003310.4:p.Glu18876=
NM_133378.4:c.76119A>G (TTN)	NP_596869.4:p.Glu25373=
NM_133432.3:c.57003A>G (TTN)	NP_597676.3:p.Glu19001=
NM_133437.4:c.57204A>G (TTN)	NP_597681.4:p.Glu19068=
NR_038271.1:n.447-8991T>C (TTN-AS1)
NR_038272.1:n.2043+19948T>C (TTN-AS1)
XM_011511729.1:c.82920A>G (TTN)	XP_011510031.1:p.Glu27640=
XM_011511730.1:c.56814A>G (TTN)	XP_011510032.1:p.Glu18938=
XM_011511731.1:c.56673A>G (TTN)	XP_011510033.1:p.Glu18891=
XM_017004819.1:c.82716A>G (TTN)	XP_016860308.1:p.Glu27572=
XM_017004820.1:c.78114A>G (TTN)	XP_016860309.1:p.Glu26038=
XM_017004821.1:c.78111A>G (TTN)	XP_016860310.1:p.Glu26037=
XM_017004822.1:c.75153A>G (TTN)	XP_016860311.1:p.Glu25051=
XM_017004823.1:c.56769A>G (TTN)	XP_016860312.1:p.Glu18923=
XM_024453094.1:c.78264A>G (TTN)	XP_024308862.1:p.Glu26088=
XM_024453095.1:c.78261A>G (TTN)	XP_024308863.1:p.Glu26087=
XM_024453096.1:c.77694A>G (TTN)	XP_024308864.1:p.Glu25898=
XM_024453097.1:c.75036A>G (TTN)	XP_024308865.1:p.Glu25012=
XM_024453098.1:c.74955A>G (TTN)	XP_024308866.1:p.Glu24985=
XM_024453099.1:c.56718A>G (TTN)	XP_024308867.1:p.Glu18906=
XM_024453100.1:c.46572A>G (TTN)	XP_024308868.1:p.Glu15524=