Canonical Allele Identifier: CA761290794

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1401483579
• gnomAD v3: 2-178592762-G-A
• gnomAD v4: 2-178592762-G-A
• MyVariant Identifiers: chr2:g.179457489G>A (hg19) ; chr2:g.178592762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592762G>A , CM000664.2:g.178592762G>A	GRCh38
NC_000002.11:g.179457489G>A , CM000664.1:g.179457489G>A	GRCh37
NC_000002.10:g.179165735G>A	NCBI36
NG_011618.3:g.243041C>T , LRG_391:g.243041C>T
NG_051363.1:g.74936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51640+13C>T (TTN)	ENSP00000343764.6:n.51640+13C>T
ENST00000342175.11:c.32725+13C>T (TTN)	ENSP00000340554.6:n.32725+13C>T
ENST00000359218.10:c.32524+13C>T (TTN)	ENSP00000352154.5:n.32524+13C>T
ENST00000342175.10:c.32725+13C>T (TTN)	ENSP00000340554.6:n.32725+13C>T
ENST00000342992.10:c.51640+13C>T (TTN)	ENSP00000343764.6:n.51640+13C>T
ENST00000359218.9:c.32524+13C>T (TTN)	ENSP00000352154.5:n.32524+13C>T
ENST00000460472.6:c.32149+13C>T (TTN)	ENSP00000434586.1:n.32149+13C>T
ENST00000589042.5:c.59344+13C>T (TTN) MANE Select	ENSP00000467141.1:n.59344+13C>T
ENST00000591111.5:c.54421+13C>T (TTN)	ENSP00000465570.1:n.54421+13C>T
ENST00000615779.4:c.54421+13C>T (TTN)	ENSP00000483597.1:n.54421+13C>T
NM_001256850.1:c.54421+13C>T (TTN)	NP_001243779.1:n.54421+13C>T
NM_001267550.2:c.59344+13C>T (TTN) MANE Select	NP_001254479.2:n.59344+13C>T
NM_003319.4:c.32149+13C>T (TTN)	NP_003310.4:n.32149+13C>T
NM_133378.4:c.51640+13C>T (TTN)	NP_596869.4:n.51640+13C>T
NM_133432.3:c.32524+13C>T (TTN)	NP_597676.3:n.32524+13C>T
NM_133437.4:c.32725+13C>T (TTN)	NP_597681.4:n.32725+13C>T
NR_038271.1:n.597-4834G>A (TTN-AS1)
NR_038272.1:n.3364+1448G>A (TTN-AS1)
XM_011511729.1:c.58441+13C>T (TTN)	XP_011510031.1:n.58441+13C>T
XM_011511730.1:c.32335+13C>T (TTN)	XP_011510032.1:n.32335+13C>T
XM_011511731.1:c.32194+13C>T (TTN)	XP_011510033.1:n.32194+13C>T
XM_017004819.1:c.58237+13C>T (TTN)	XP_016860308.1:n.58237+13C>T
XM_017004820.1:c.53635+13C>T (TTN)	XP_016860309.1:n.53635+13C>T
XM_017004821.1:c.53632+13C>T (TTN)	XP_016860310.1:n.53632+13C>T
XM_017004822.1:c.50674+13C>T (TTN)	XP_016860311.1:n.50674+13C>T
XM_017004823.1:c.32290+13C>T (TTN)	XP_016860312.1:n.32290+13C>T
XM_024453094.1:c.53785+13C>T (TTN)	XP_024308862.1:n.53785+13C>T
XM_024453095.1:c.53782+13C>T (TTN)	XP_024308863.1:n.53782+13C>T
XM_024453096.1:c.53215+13C>T (TTN)	XP_024308864.1:n.53215+13C>T
XM_024453097.1:c.50557+13C>T (TTN)	XP_024308865.1:n.50557+13C>T
XM_024453098.1:c.50476+13C>T (TTN)	XP_024308866.1:n.50476+13C>T
XM_024453099.1:c.32239+13C>T (TTN)	XP_024308867.1:n.32239+13C>T
XM_024453100.1:c.22093+13C>T (TTN)	XP_024308868.1:n.22093+13C>T