Canonical Allele Identifier: CA349427704

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402257G>A (hg19) ; chr2:g.178537530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537530G>A , CM000664.2:g.178537530G>A	GRCh38
NC_000002.11:g.179402257G>A , CM000664.1:g.179402257G>A	GRCh37
NC_000002.10:g.179110503G>A	NCBI36
NG_011618.3:g.298273C>T , LRG_391:g.298273C>T
NG_051363.1:g.19704G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91973C>T (TTN)	ENSP00000343764.6:p.Pro30658Leu
ENST00000342175.11:c.73058C>T (TTN)	ENSP00000340554.6:p.Pro24353Leu
ENST00000359218.10:c.72857C>T (TTN)	ENSP00000352154.5:p.Pro24286Leu
ENST00000342175.10:c.73058C>T (TTN)	ENSP00000340554.6:p.Pro24353Leu
ENST00000342992.10:c.91973C>T (TTN)	ENSP00000343764.6:p.Pro30658Leu
ENST00000359218.9:c.72857C>T (TTN)	ENSP00000352154.5:p.Pro24286Leu
ENST00000460472.6:c.72482C>T (TTN)	ENSP00000434586.1:p.Pro24161Leu
ENST00000589042.5:c.99677C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33226Leu
ENST00000591111.5:c.94754C>T (TTN)	ENSP00000465570.1:p.Pro31585Leu
ENST00000615779.4:c.94754C>T (TTN)	ENSP00000483597.1:p.Pro31585Leu
NM_001256850.1:c.94754C>T (TTN)	NP_001243779.1:p.Pro31585Leu
NM_001267550.2:c.99677C>T (TTN) MANE Select	NP_001254479.2:p.Pro33226Leu
NM_003319.4:c.72482C>T (TTN)	NP_003310.4:p.Pro24161Leu
NM_133378.4:c.91973C>T (TTN)	NP_596869.4:p.Pro30658Leu
NM_133432.3:c.72857C>T (TTN)	NP_597676.3:p.Pro24286Leu
NM_133437.4:c.73058C>T (TTN)	NP_597681.4:p.Pro24353Leu
NR_038271.1:n.446+13894G>A (TTN-AS1)
NR_038272.1:n.486G>A (TTN-AS1)
XM_011511729.1:c.98774C>T (TTN)	XP_011510031.1:p.Pro32925Leu
XM_011511730.1:c.72668C>T (TTN)	XP_011510032.1:p.Pro24223Leu
XM_011511731.1:c.72527C>T (TTN)	XP_011510033.1:p.Pro24176Leu
XM_017004819.1:c.98570C>T (TTN)	XP_016860308.1:p.Pro32857Leu
XM_017004820.1:c.93968C>T (TTN)	XP_016860309.1:p.Pro31323Leu
XM_017004821.1:c.93965C>T (TTN)	XP_016860310.1:p.Pro31322Leu
XM_017004822.1:c.91007C>T (TTN)	XP_016860311.1:p.Pro30336Leu
XM_017004823.1:c.72623C>T (TTN)	XP_016860312.1:p.Pro24208Leu
XM_024453094.1:c.94118C>T (TTN)	XP_024308862.1:p.Pro31373Leu
XM_024453095.1:c.94115C>T (TTN)	XP_024308863.1:p.Pro31372Leu
XM_024453096.1:c.93548C>T (TTN)	XP_024308864.1:p.Pro31183Leu
XM_024453097.1:c.90890C>T (TTN)	XP_024308865.1:p.Pro30297Leu
XM_024453098.1:c.90809C>T (TTN)	XP_024308866.1:p.Pro30270Leu
XM_024453099.1:c.72572C>T (TTN)	XP_024308867.1:p.Pro24191Leu
XM_024453100.1:c.62426C>T (TTN)	XP_024308868.1:p.Pro20809Leu