Canonical Allele Identifier: CA349456611

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409089C>A (hg19) ; chr2:g.178544362C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544362C>A , CM000664.2:g.178544362C>A	GRCh38
NC_000002.11:g.179409089C>A , CM000664.1:g.179409089C>A	GRCh37
NC_000002.10:g.179117335C>A	NCBI36
NG_011618.3:g.291441G>T , LRG_391:g.291441G>T
NG_051363.1:g.26536C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88163G>T (TTN)	ENSP00000343764.6:p.Trp29388Leu
ENST00000342175.11:c.69248G>T (TTN)	ENSP00000340554.6:p.Trp23083Leu
ENST00000359218.10:c.69047G>T (TTN)	ENSP00000352154.5:p.Trp23016Leu
ENST00000342175.10:c.69248G>T (TTN)	ENSP00000340554.6:p.Trp23083Leu
ENST00000342992.10:c.88163G>T (TTN)	ENSP00000343764.6:p.Trp29388Leu
ENST00000359218.9:c.69047G>T (TTN)	ENSP00000352154.5:p.Trp23016Leu
ENST00000460472.6:c.68672G>T (TTN)	ENSP00000434586.1:p.Trp22891Leu
ENST00000589042.5:c.95867G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp31956Leu
ENST00000591111.5:c.90944G>T (TTN)	ENSP00000465570.1:p.Trp30315Leu
ENST00000615779.4:c.90944G>T (TTN)	ENSP00000483597.1:p.Trp30315Leu
NM_001256850.1:c.90944G>T (TTN)	NP_001243779.1:p.Trp30315Leu
NM_001267550.2:c.95867G>T (TTN) MANE Select	NP_001254479.2:p.Trp31956Leu
NM_003319.4:c.68672G>T (TTN)	NP_003310.4:p.Trp22891Leu
NM_133378.4:c.88163G>T (TTN)	NP_596869.4:p.Trp29388Leu
NM_133432.3:c.69047G>T (TTN)	NP_597676.3:p.Trp23016Leu
NM_133437.4:c.69248G>T (TTN)	NP_597681.4:p.Trp23083Leu
NR_038271.1:n.446+20726C>A (TTN-AS1)
NR_038272.1:n.2043+2001C>A (TTN-AS1)
XM_011511729.1:c.94964G>T (TTN)	XP_011510031.1:p.Trp31655Leu
XM_011511730.1:c.68858G>T (TTN)	XP_011510032.1:p.Trp22953Leu
XM_011511731.1:c.68717G>T (TTN)	XP_011510033.1:p.Trp22906Leu
XM_017004819.1:c.94760G>T (TTN)	XP_016860308.1:p.Trp31587Leu
XM_017004820.1:c.90158G>T (TTN)	XP_016860309.1:p.Trp30053Leu
XM_017004821.1:c.90155G>T (TTN)	XP_016860310.1:p.Trp30052Leu
XM_017004822.1:c.87197G>T (TTN)	XP_016860311.1:p.Trp29066Leu
XM_017004823.1:c.68813G>T (TTN)	XP_016860312.1:p.Trp22938Leu
XM_024453094.1:c.90308G>T (TTN)	XP_024308862.1:p.Trp30103Leu
XM_024453095.1:c.90305G>T (TTN)	XP_024308863.1:p.Trp30102Leu
XM_024453096.1:c.89738G>T (TTN)	XP_024308864.1:p.Trp29913Leu
XM_024453097.1:c.87080G>T (TTN)	XP_024308865.1:p.Trp29027Leu
XM_024453098.1:c.86999G>T (TTN)	XP_024308866.1:p.Trp29000Leu
XM_024453099.1:c.68762G>T (TTN)	XP_024308867.1:p.Trp22921Leu
XM_024453100.1:c.58616G>T (TTN)	XP_024308868.1:p.Trp19539Leu