Canonical Allele Identifier: CA1989549

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 290460
• ClinVar RCV Id: RCV000364361
• dbSNP Id: rs754702040
• ExAC: 2:179431930 G / A
• gnomAD v2: 2-179431930-G-A
• gnomAD v3: 2-178567203-G-A
• gnomAD v4: 2-178567203-G-A
• MyVariant Identifiers: chr2:g.179431930G>A (hg19) ; chr2:g.178567203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567203G>A , CM000664.2:g.178567203G>A	GRCh38
NC_000002.11:g.179431930G>A , CM000664.1:g.179431930G>A	GRCh37
NC_000002.10:g.179140176G>A	NCBI36
NG_011618.3:g.268600C>T , LRG_391:g.268600C>T
NG_051363.1:g.49377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71225C>T (TTN)	ENSP00000343764.6:p.Pro23742Leu
ENST00000342175.11:c.52310C>T (TTN)	ENSP00000340554.6:p.Pro17437Leu
ENST00000359218.10:c.52109C>T (TTN)	ENSP00000352154.5:p.Pro17370Leu
ENST00000342175.10:c.52310C>T (TTN)	ENSP00000340554.6:p.Pro17437Leu
ENST00000342992.10:c.71225C>T (TTN)	ENSP00000343764.6:p.Pro23742Leu
ENST00000359218.9:c.52109C>T (TTN)	ENSP00000352154.5:p.Pro17370Leu
ENST00000460472.6:c.51734C>T (TTN)	ENSP00000434586.1:p.Pro17245Leu
ENST00000589042.5:c.78929C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro26310Leu
ENST00000591111.5:c.74006C>T (TTN)	ENSP00000465570.1:p.Pro24669Leu
ENST00000615779.4:c.74006C>T (TTN)	ENSP00000483597.1:p.Pro24669Leu
NM_001256850.1:c.74006C>T (TTN)	NP_001243779.1:p.Pro24669Leu
NM_001267550.2:c.78929C>T (TTN) MANE Select	NP_001254479.2:p.Pro26310Leu
NM_003319.4:c.51734C>T (TTN)	NP_003310.4:p.Pro17245Leu
NM_133378.4:c.71225C>T (TTN)	NP_596869.4:p.Pro23742Leu
NM_133432.3:c.52109C>T (TTN)	NP_597676.3:p.Pro17370Leu
NM_133437.4:c.52310C>T (TTN)	NP_597681.4:p.Pro17437Leu
NR_038271.1:n.447-4097G>A (TTN-AS1)
NR_038272.1:n.2044-15369G>A (TTN-AS1)
XM_011511729.1:c.78026C>T (TTN)	XP_011510031.1:p.Pro26009Leu
XM_011511730.1:c.51920C>T (TTN)	XP_011510032.1:p.Pro17307Leu
XM_011511731.1:c.51779C>T (TTN)	XP_011510033.1:p.Pro17260Leu
XM_017004819.1:c.77822C>T (TTN)	XP_016860308.1:p.Pro25941Leu
XM_017004820.1:c.73220C>T (TTN)	XP_016860309.1:p.Pro24407Leu
XM_017004821.1:c.73217C>T (TTN)	XP_016860310.1:p.Pro24406Leu
XM_017004822.1:c.70259C>T (TTN)	XP_016860311.1:p.Pro23420Leu
XM_017004823.1:c.51875C>T (TTN)	XP_016860312.1:p.Pro17292Leu
XM_024453094.1:c.73370C>T (TTN)	XP_024308862.1:p.Pro24457Leu
XM_024453095.1:c.73367C>T (TTN)	XP_024308863.1:p.Pro24456Leu
XM_024453096.1:c.72800C>T (TTN)	XP_024308864.1:p.Pro24267Leu
XM_024453097.1:c.70142C>T (TTN)	XP_024308865.1:p.Pro23381Leu
XM_024453098.1:c.70061C>T (TTN)	XP_024308866.1:p.Pro23354Leu
XM_024453099.1:c.51824C>T (TTN)	XP_024308867.1:p.Pro17275Leu
XM_024453100.1:c.41678C>T (TTN)	XP_024308868.1:p.Pro13893Leu