Canonical Allele Identifier: CA349593174

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430982C>A (hg19) ; chr2:g.178566255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566255C>A , CM000664.2:g.178566255C>A	GRCh38
NC_000002.11:g.179430982C>A , CM000664.1:g.179430982C>A	GRCh37
NC_000002.10:g.179139228C>A	NCBI36
NG_011618.3:g.269548G>T , LRG_391:g.269548G>T
NG_051363.1:g.48429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.72173G>T (TTN)	ENSP00000343764.6:p.Trp24058Leu
ENST00000342175.11:c.53258G>T (TTN)	ENSP00000340554.6:p.Trp17753Leu
ENST00000359218.10:c.53057G>T (TTN)	ENSP00000352154.5:p.Trp17686Leu
ENST00000342175.10:c.53258G>T (TTN)	ENSP00000340554.6:p.Trp17753Leu
ENST00000342992.10:c.72173G>T (TTN)	ENSP00000343764.6:p.Trp24058Leu
ENST00000359218.9:c.53057G>T (TTN)	ENSP00000352154.5:p.Trp17686Leu
ENST00000460472.6:c.52682G>T (TTN)	ENSP00000434586.1:p.Trp17561Leu
ENST00000589042.5:c.79877G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp26626Leu
ENST00000591111.5:c.74954G>T (TTN)	ENSP00000465570.1:p.Trp24985Leu
ENST00000615779.4:c.74954G>T (TTN)	ENSP00000483597.1:p.Trp24985Leu
NM_001256850.1:c.74954G>T (TTN)	NP_001243779.1:p.Trp24985Leu
NM_001267550.2:c.79877G>T (TTN) MANE Select	NP_001254479.2:p.Trp26626Leu
NM_003319.4:c.52682G>T (TTN)	NP_003310.4:p.Trp17561Leu
NM_133378.4:c.72173G>T (TTN)	NP_596869.4:p.Trp24058Leu
NM_133432.3:c.53057G>T (TTN)	NP_597676.3:p.Trp17686Leu
NM_133437.4:c.53258G>T (TTN)	NP_597681.4:p.Trp17753Leu
NR_038271.1:n.447-5045C>A (TTN-AS1)
NR_038272.1:n.2044-16317C>A (TTN-AS1)
XM_011511729.1:c.78974G>T (TTN)	XP_011510031.1:p.Trp26325Leu
XM_011511730.1:c.52868G>T (TTN)	XP_011510032.1:p.Trp17623Leu
XM_011511731.1:c.52727G>T (TTN)	XP_011510033.1:p.Trp17576Leu
XM_017004819.1:c.78770G>T (TTN)	XP_016860308.1:p.Trp26257Leu
XM_017004820.1:c.74168G>T (TTN)	XP_016860309.1:p.Trp24723Leu
XM_017004821.1:c.74165G>T (TTN)	XP_016860310.1:p.Trp24722Leu
XM_017004822.1:c.71207G>T (TTN)	XP_016860311.1:p.Trp23736Leu
XM_017004823.1:c.52823G>T (TTN)	XP_016860312.1:p.Trp17608Leu
XM_024453094.1:c.74318G>T (TTN)	XP_024308862.1:p.Trp24773Leu
XM_024453095.1:c.74315G>T (TTN)	XP_024308863.1:p.Trp24772Leu
XM_024453096.1:c.73748G>T (TTN)	XP_024308864.1:p.Trp24583Leu
XM_024453097.1:c.71090G>T (TTN)	XP_024308865.1:p.Trp23697Leu
XM_024453098.1:c.71009G>T (TTN)	XP_024308866.1:p.Trp23670Leu
XM_024453099.1:c.52772G>T (TTN)	XP_024308867.1:p.Trp17591Leu
XM_024453100.1:c.42626G>T (TTN)	XP_024308868.1:p.Trp14209Leu