Canonical Allele Identifier: CA349446242

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408052T>A (hg19) ; chr2:g.178543325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543325T>A , CM000664.2:g.178543325T>A	GRCh38
NC_000002.11:g.179408052T>A , CM000664.1:g.179408052T>A	GRCh37
NC_000002.10:g.179116298T>A	NCBI36
NG_011618.3:g.292478A>T , LRG_391:g.292478A>T
NG_051363.1:g.25499T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88944A>T (TTN)	ENSP00000343764.6:p.Lys29648Asn
ENST00000342175.11:c.70029A>T (TTN)	ENSP00000340554.6:p.Lys23343Asn
ENST00000359218.10:c.69828A>T (TTN)	ENSP00000352154.5:p.Lys23276Asn
ENST00000342175.10:c.70029A>T (TTN)	ENSP00000340554.6:p.Lys23343Asn
ENST00000342992.10:c.88944A>T (TTN)	ENSP00000343764.6:p.Lys29648Asn
ENST00000359218.9:c.69828A>T (TTN)	ENSP00000352154.5:p.Lys23276Asn
ENST00000460472.6:c.69453A>T (TTN)	ENSP00000434586.1:p.Lys23151Asn
ENST00000589042.5:c.96648A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys32216Asn
ENST00000591111.5:c.91725A>T (TTN)	ENSP00000465570.1:p.Lys30575Asn
ENST00000615779.4:c.91725A>T (TTN)	ENSP00000483597.1:p.Lys30575Asn
NM_001256850.1:c.91725A>T (TTN)	NP_001243779.1:p.Lys30575Asn
NM_001267550.2:c.96648A>T (TTN) MANE Select	NP_001254479.2:p.Lys32216Asn
NM_003319.4:c.69453A>T (TTN)	NP_003310.4:p.Lys23151Asn
NM_133378.4:c.88944A>T (TTN)	NP_596869.4:p.Lys29648Asn
NM_133432.3:c.69828A>T (TTN)	NP_597676.3:p.Lys23276Asn
NM_133437.4:c.70029A>T (TTN)	NP_597681.4:p.Lys23343Asn
NR_038271.1:n.446+19689T>A (TTN-AS1)
NR_038272.1:n.2043+964T>A (TTN-AS1)
XM_011511729.1:c.95745A>T (TTN)	XP_011510031.1:p.Lys31915Asn
XM_011511730.1:c.69639A>T (TTN)	XP_011510032.1:p.Lys23213Asn
XM_011511731.1:c.69498A>T (TTN)	XP_011510033.1:p.Lys23166Asn
XM_017004819.1:c.95541A>T (TTN)	XP_016860308.1:p.Lys31847Asn
XM_017004820.1:c.90939A>T (TTN)	XP_016860309.1:p.Lys30313Asn
XM_017004821.1:c.90936A>T (TTN)	XP_016860310.1:p.Lys30312Asn
XM_017004822.1:c.87978A>T (TTN)	XP_016860311.1:p.Lys29326Asn
XM_017004823.1:c.69594A>T (TTN)	XP_016860312.1:p.Lys23198Asn
XM_024453094.1:c.91089A>T (TTN)	XP_024308862.1:p.Lys30363Asn
XM_024453095.1:c.91086A>T (TTN)	XP_024308863.1:p.Lys30362Asn
XM_024453096.1:c.90519A>T (TTN)	XP_024308864.1:p.Lys30173Asn
XM_024453097.1:c.87861A>T (TTN)	XP_024308865.1:p.Lys29287Asn
XM_024453098.1:c.87780A>T (TTN)	XP_024308866.1:p.Lys29260Asn
XM_024453099.1:c.69543A>T (TTN)	XP_024308867.1:p.Lys23181Asn
XM_024453100.1:c.59397A>T (TTN)	XP_024308868.1:p.Lys19799Asn