Canonical Allele Identifier: CA349406022

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395006C>T (hg19) ; chr2:g.178530279C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530279C>T , CM000664.2:g.178530279C>T	GRCh38
NC_000002.11:g.179395006C>T , CM000664.1:g.179395006C>T	GRCh37
NC_000002.10:g.179103252C>T	NCBI36
NG_011618.3:g.305524G>A , LRG_391:g.305524G>A
NG_051363.1:g.12453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98632G>A (TTN)	ENSP00000343764.6:p.Glu32878Lys
ENST00000342175.11:c.79717G>A (TTN)	ENSP00000340554.6:p.Glu26573Lys
ENST00000359218.10:c.79516G>A (TTN)	ENSP00000352154.5:p.Glu26506Lys
ENST00000342175.10:c.79717G>A (TTN)	ENSP00000340554.6:p.Glu26573Lys
ENST00000342992.10:c.98632G>A (TTN)	ENSP00000343764.6:p.Glu32878Lys
ENST00000359218.9:c.79516G>A (TTN)	ENSP00000352154.5:p.Glu26506Lys
ENST00000460472.6:c.79141G>A (TTN)	ENSP00000434586.1:p.Glu26381Lys
ENST00000589042.5:c.106336G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu35446Lys
ENST00000591111.5:c.101413G>A (TTN)	ENSP00000465570.1:p.Glu33805Lys
ENST00000615779.4:c.101413G>A (TTN)	ENSP00000483597.1:p.Glu33805Lys
NM_001256850.1:c.101413G>A (TTN)	NP_001243779.1:p.Glu33805Lys
NM_001267550.2:c.106336G>A (TTN) MANE Select	NP_001254479.2:p.Glu35446Lys
NM_003319.4:c.79141G>A (TTN)	NP_003310.4:p.Glu26381Lys
NM_133378.4:c.98632G>A (TTN)	NP_596869.4:p.Glu32878Lys
NM_133432.3:c.79516G>A (TTN)	NP_597676.3:p.Glu26506Lys
NM_133437.4:c.79717G>A (TTN)	NP_597681.4:p.Glu26573Lys
NR_038271.1:n.446+6643C>T (TTN-AS1)
NR_038272.1:n.220-5453C>T (TTN-AS1)
XM_011511729.1:c.105433G>A (TTN)	XP_011510031.1:p.Glu35145Lys
XM_011511730.1:c.79327G>A (TTN)	XP_011510032.1:p.Glu26443Lys
XM_011511731.1:c.79186G>A (TTN)	XP_011510033.1:p.Glu26396Lys
XM_017004819.1:c.105229G>A (TTN)	XP_016860308.1:p.Glu35077Lys
XM_017004820.1:c.100627G>A (TTN)	XP_016860309.1:p.Glu33543Lys
XM_017004821.1:c.100624G>A (TTN)	XP_016860310.1:p.Glu33542Lys
XM_017004822.1:c.97666G>A (TTN)	XP_016860311.1:p.Glu32556Lys
XM_017004823.1:c.79282G>A (TTN)	XP_016860312.1:p.Glu26428Lys
XM_024453094.1:c.100777G>A (TTN)	XP_024308862.1:p.Glu33593Lys
XM_024453095.1:c.100774G>A (TTN)	XP_024308863.1:p.Glu33592Lys
XM_024453096.1:c.100207G>A (TTN)	XP_024308864.1:p.Glu33403Lys
XM_024453097.1:c.97549G>A (TTN)	XP_024308865.1:p.Glu32517Lys
XM_024453098.1:c.97468G>A (TTN)	XP_024308866.1:p.Glu32490Lys
XM_024453099.1:c.79231G>A (TTN)	XP_024308867.1:p.Glu26411Lys
XM_024453100.1:c.69085G>A (TTN)	XP_024308868.1:p.Glu23029Lys