Canonical Allele Identifier: CA430241316

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408019G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543292G>A , CM000664.2:g.178543292G>A	GRCh38
NC_000002.11:g.179408019G>A , CM000664.1:g.179408019G>A	GRCh37
NC_000002.10:g.179116265G>A	NCBI36
NG_011618.3:g.292511C>T , LRG_391:g.292511C>T
NG_051363.1:g.25466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88977C>T (TTN)	ENSP00000343764.6:p.Leu29659=
ENST00000342175.11:c.70062C>T (TTN)	ENSP00000340554.6:p.Leu23354=
ENST00000359218.10:c.69861C>T (TTN)	ENSP00000352154.5:p.Leu23287=
ENST00000342175.10:c.70062C>T (TTN)	ENSP00000340554.6:p.Leu23354=
ENST00000342992.10:c.88977C>T (TTN)	ENSP00000343764.6:p.Leu29659=
ENST00000359218.9:c.69861C>T (TTN)	ENSP00000352154.5:p.Leu23287=
ENST00000460472.6:c.69486C>T (TTN)	ENSP00000434586.1:p.Leu23162=
ENST00000589042.5:c.96681C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu32227=
ENST00000591111.5:c.91758C>T (TTN)	ENSP00000465570.1:p.Leu30586=
ENST00000615779.4:c.91758C>T (TTN)	ENSP00000483597.1:p.Leu30586=
NM_001256850.1:c.91758C>T (TTN)	NP_001243779.1:p.Leu30586=
NM_001267550.2:c.96681C>T (TTN) MANE Select	NP_001254479.2:p.Leu32227=
NM_003319.4:c.69486C>T (TTN)	NP_003310.4:p.Leu23162=
NM_133378.4:c.88977C>T (TTN)	NP_596869.4:p.Leu29659=
NM_133432.3:c.69861C>T (TTN)	NP_597676.3:p.Leu23287=
NM_133437.4:c.70062C>T (TTN)	NP_597681.4:p.Leu23354=
NR_038271.1:n.446+19656G>A (TTN-AS1)
NR_038272.1:n.2043+931G>A (TTN-AS1)
XM_011511729.1:c.95778C>T (TTN)	XP_011510031.1:p.Leu31926=
XM_011511730.1:c.69672C>T (TTN)	XP_011510032.1:p.Leu23224=
XM_011511731.1:c.69531C>T (TTN)	XP_011510033.1:p.Leu23177=
XM_017004819.1:c.95574C>T (TTN)	XP_016860308.1:p.Leu31858=
XM_017004820.1:c.90972C>T (TTN)	XP_016860309.1:p.Leu30324=
XM_017004821.1:c.90969C>T (TTN)	XP_016860310.1:p.Leu30323=
XM_017004822.1:c.88011C>T (TTN)	XP_016860311.1:p.Leu29337=
XM_017004823.1:c.69627C>T (TTN)	XP_016860312.1:p.Leu23209=
XM_024453094.1:c.91122C>T (TTN)	XP_024308862.1:p.Leu30374=
XM_024453095.1:c.91119C>T (TTN)	XP_024308863.1:p.Leu30373=
XM_024453096.1:c.90552C>T (TTN)	XP_024308864.1:p.Leu30184=
XM_024453097.1:c.87894C>T (TTN)	XP_024308865.1:p.Leu29298=
XM_024453098.1:c.87813C>T (TTN)	XP_024308866.1:p.Leu29271=
XM_024453099.1:c.69576C>T (TTN)	XP_024308867.1:p.Leu23192=
XM_024453100.1:c.59430C>T (TTN)	XP_024308868.1:p.Leu19810=