Canonical Allele Identifier: CA309498

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202521
• ClinVar RCV Id: RCV000184390 ; RCV000532259 ; RCV002336479 ; RCV002485237
• dbSNP Id: rs794729382
• gnomAD v4: 2-178570804-G-A
• COSMIC: COSM6216438 ; COSM6216439 ; COSM6216440 ; COSM6216441
• MyVariant Identifiers: chr2:g.179435531G>A (hg19) ; chr2:g.178570804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570804G>A , CM000664.2:g.178570804G>A	GRCh38
NC_000002.11:g.179435531G>A , CM000664.1:g.179435531G>A	GRCh37
NC_000002.10:g.179143777G>A	NCBI36
NG_011618.3:g.264999C>T , LRG_391:g.264999C>T
NG_051363.1:g.52978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67624C>T (TTN)	ENSP00000343764.6:p.Arg22542Ter
ENST00000342175.11:c.48709C>T (TTN)	ENSP00000340554.6:p.Arg16237Ter
ENST00000359218.10:c.48508C>T (TTN)	ENSP00000352154.5:p.Arg16170Ter
ENST00000342175.10:c.48709C>T (TTN)	ENSP00000340554.6:p.Arg16237Ter
ENST00000342992.10:c.67624C>T (TTN)	ENSP00000343764.6:p.Arg22542Ter
ENST00000359218.9:c.48508C>T (TTN)	ENSP00000352154.5:p.Arg16170Ter
ENST00000460472.6:c.48133C>T (TTN)	ENSP00000434586.1:p.Arg16045Ter
ENST00000589042.5:c.75328C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25110Ter
ENST00000591111.5:c.70405C>T (TTN)	ENSP00000465570.1:p.Arg23469Ter
ENST00000615779.4:c.70405C>T (TTN)	ENSP00000483597.1:p.Arg23469Ter
NM_001256850.1:c.70405C>T (TTN)	NP_001243779.1:p.Arg23469Ter
NM_001267550.2:c.75328C>T (TTN) MANE Select	NP_001254479.2:p.Arg25110Ter
NM_003319.4:c.48133C>T (TTN)	NP_003310.4:p.Arg16045Ter
NM_133378.4:c.67624C>T (TTN)	NP_596869.4:p.Arg22542Ter
NM_133432.3:c.48508C>T (TTN)	NP_597676.3:p.Arg16170Ter
NM_133437.4:c.48709C>T (TTN)	NP_597681.4:p.Arg16237Ter
NR_038271.1:n.447-496G>A (TTN-AS1)
NR_038272.1:n.2044-11768G>A (TTN-AS1)
XM_011511729.1:c.74425C>T (TTN)	XP_011510031.1:p.Arg24809Ter
XM_011511730.1:c.48319C>T (TTN)	XP_011510032.1:p.Arg16107Ter
XM_011511731.1:c.48178C>T (TTN)	XP_011510033.1:p.Arg16060Ter
XM_017004819.1:c.74221C>T (TTN)	XP_016860308.1:p.Arg24741Ter
XM_017004820.1:c.69619C>T (TTN)	XP_016860309.1:p.Arg23207Ter
XM_017004821.1:c.69616C>T (TTN)	XP_016860310.1:p.Arg23206Ter
XM_017004822.1:c.66658C>T (TTN)	XP_016860311.1:p.Arg22220Ter
XM_017004823.1:c.48274C>T (TTN)	XP_016860312.1:p.Arg16092Ter
XM_024453094.1:c.69769C>T (TTN)	XP_024308862.1:p.Arg23257Ter
XM_024453095.1:c.69766C>T (TTN)	XP_024308863.1:p.Arg23256Ter
XM_024453096.1:c.69199C>T (TTN)	XP_024308864.1:p.Arg23067Ter
XM_024453097.1:c.66541C>T (TTN)	XP_024308865.1:p.Arg22181Ter
XM_024453098.1:c.66460C>T (TTN)	XP_024308866.1:p.Arg22154Ter
XM_024453099.1:c.48223C>T (TTN)	XP_024308867.1:p.Arg16075Ter
XM_024453100.1:c.38077C>T (TTN)	XP_024308868.1:p.Arg12693Ter