Canonical Allele Identifier: CA349480887

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 432214
• ClinVar RCV Id: RCV000497363 ; RCV002524077
• dbSNP Id: rs1553528016
• gnomAD v4: 2-178547845-G-A
• COSMIC: COSM1010567 ; COSM1010569 ; COSM1010570 ; COSM1590916
• MyVariant Identifiers: chr2:g.179412572G>A (hg19) ; chr2:g.178547845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547845G>A , CM000664.2:g.178547845G>A	GRCh38
NC_000002.11:g.179412572G>A , CM000664.1:g.179412572G>A	GRCh37
NC_000002.10:g.179120818G>A	NCBI36
NG_011618.3:g.287958C>T , LRG_391:g.287958C>T
NG_051363.1:g.30019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86077C>T (TTN)	ENSP00000343764.6:p.Arg28693Ter
ENST00000342175.11:c.67162C>T (TTN)	ENSP00000340554.6:p.Arg22388Ter
ENST00000359218.10:c.66961C>T (TTN)	ENSP00000352154.5:p.Arg22321Ter
ENST00000342175.10:c.67162C>T (TTN)	ENSP00000340554.6:p.Arg22388Ter
ENST00000342992.10:c.86077C>T (TTN)	ENSP00000343764.6:p.Arg28693Ter
ENST00000359218.9:c.66961C>T (TTN)	ENSP00000352154.5:p.Arg22321Ter
ENST00000460472.6:c.66586C>T (TTN)	ENSP00000434586.1:p.Arg22196Ter
ENST00000589042.5:c.93781C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg31261Ter
ENST00000591111.5:c.88858C>T (TTN)	ENSP00000465570.1:p.Arg29620Ter
ENST00000615779.4:c.88858C>T (TTN)	ENSP00000483597.1:p.Arg29620Ter
NM_001256850.1:c.88858C>T (TTN)	NP_001243779.1:p.Arg29620Ter
NM_001267550.2:c.93781C>T (TTN) MANE Select	NP_001254479.2:p.Arg31261Ter
NM_003319.4:c.66586C>T (TTN)	NP_003310.4:p.Arg22196Ter
NM_133378.4:c.86077C>T (TTN)	NP_596869.4:p.Arg28693Ter
NM_133432.3:c.66961C>T (TTN)	NP_597676.3:p.Arg22321Ter
NM_133437.4:c.67162C>T (TTN)	NP_597681.4:p.Arg22388Ter
NR_038271.1:n.447-23455G>A (TTN-AS1)
NR_038272.1:n.2043+5484G>A (TTN-AS1)
XM_011511729.1:c.92878C>T (TTN)	XP_011510031.1:p.Arg30960Ter
XM_011511730.1:c.66772C>T (TTN)	XP_011510032.1:p.Arg22258Ter
XM_011511731.1:c.66631C>T (TTN)	XP_011510033.1:p.Arg22211Ter
XM_017004819.1:c.92674C>T (TTN)	XP_016860308.1:p.Arg30892Ter
XM_017004820.1:c.88072C>T (TTN)	XP_016860309.1:p.Arg29358Ter
XM_017004821.1:c.88069C>T (TTN)	XP_016860310.1:p.Arg29357Ter
XM_017004822.1:c.85111C>T (TTN)	XP_016860311.1:p.Arg28371Ter
XM_017004823.1:c.66727C>T (TTN)	XP_016860312.1:p.Arg22243Ter
XM_024453094.1:c.88222C>T (TTN)	XP_024308862.1:p.Arg29408Ter
XM_024453095.1:c.88219C>T (TTN)	XP_024308863.1:p.Arg29407Ter
XM_024453096.1:c.87652C>T (TTN)	XP_024308864.1:p.Arg29218Ter
XM_024453097.1:c.84994C>T (TTN)	XP_024308865.1:p.Arg28332Ter
XM_024453098.1:c.84913C>T (TTN)	XP_024308866.1:p.Arg28305Ter
XM_024453099.1:c.66676C>T (TTN)	XP_024308867.1:p.Arg22226Ter
XM_024453100.1:c.56530C>T (TTN)	XP_024308868.1:p.Arg18844Ter