Canonical Allele Identifier: CA349488770

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456716A>G (hg19) ; chr2:g.178591989A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591989A>G , CM000664.2:g.178591989A>G	GRCh38
NC_000002.11:g.179456716A>G , CM000664.1:g.179456716A>G	GRCh37
NC_000002.10:g.179164962A>G	NCBI36
NG_011618.3:g.243814T>C , LRG_391:g.243814T>C
NG_051363.1:g.74163A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52211T>C (TTN)	ENSP00000343764.6:p.Leu17404Ser
ENST00000342175.11:c.33296T>C (TTN)	ENSP00000340554.6:p.Leu11099Ser
ENST00000359218.10:c.33095T>C (TTN)	ENSP00000352154.5:p.Leu11032Ser
ENST00000342175.10:c.33296T>C (TTN)	ENSP00000340554.6:p.Leu11099Ser
ENST00000342992.10:c.52211T>C (TTN)	ENSP00000343764.6:p.Leu17404Ser
ENST00000359218.9:c.33095T>C (TTN)	ENSP00000352154.5:p.Leu11032Ser
ENST00000460472.6:c.32720T>C (TTN)	ENSP00000434586.1:p.Leu10907Ser
ENST00000589042.5:c.59915T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu19972Ser
ENST00000591111.5:c.54992T>C (TTN)	ENSP00000465570.1:p.Leu18331Ser
ENST00000615779.4:c.54992T>C (TTN)	ENSP00000483597.1:p.Leu18331Ser
NM_001256850.1:c.54992T>C (TTN)	NP_001243779.1:p.Leu18331Ser
NM_001267550.2:c.59915T>C (TTN) MANE Select	NP_001254479.2:p.Leu19972Ser
NM_003319.4:c.32720T>C (TTN)	NP_003310.4:p.Leu10907Ser
NM_133378.4:c.52211T>C (TTN)	NP_596869.4:p.Leu17404Ser
NM_133432.3:c.33095T>C (TTN)	NP_597676.3:p.Leu11032Ser
NM_133437.4:c.33296T>C (TTN)	NP_597681.4:p.Leu11099Ser
NR_038271.1:n.597-5607A>G (TTN-AS1)
NR_038272.1:n.3364+675A>G (TTN-AS1)
XM_011511729.1:c.59012T>C (TTN)	XP_011510031.1:p.Leu19671Ser
XM_011511730.1:c.32906T>C (TTN)	XP_011510032.1:p.Leu10969Ser
XM_011511731.1:c.32765T>C (TTN)	XP_011510033.1:p.Leu10922Ser
XM_017004819.1:c.58808T>C (TTN)	XP_016860308.1:p.Leu19603Ser
XM_017004820.1:c.54206T>C (TTN)	XP_016860309.1:p.Leu18069Ser
XM_017004821.1:c.54203T>C (TTN)	XP_016860310.1:p.Leu18068Ser
XM_017004822.1:c.51245T>C (TTN)	XP_016860311.1:p.Leu17082Ser
XM_017004823.1:c.32861T>C (TTN)	XP_016860312.1:p.Leu10954Ser
XM_024453094.1:c.54356T>C (TTN)	XP_024308862.1:p.Leu18119Ser
XM_024453095.1:c.54353T>C (TTN)	XP_024308863.1:p.Leu18118Ser
XM_024453096.1:c.53786T>C (TTN)	XP_024308864.1:p.Leu17929Ser
XM_024453097.1:c.51128T>C (TTN)	XP_024308865.1:p.Leu17043Ser
XM_024453098.1:c.51047T>C (TTN)	XP_024308866.1:p.Leu17016Ser
XM_024453099.1:c.32810T>C (TTN)	XP_024308867.1:p.Leu10937Ser
XM_024453100.1:c.22664T>C (TTN)	XP_024308868.1:p.Leu7555Ser