Canonical Allele Identifier: CA10581850

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 238830
• ClinVar RCV Id: RCV000727253 ; RCV001379429 ; RCV003278709
• dbSNP Id: rs878854328
• gnomAD v4: 2-178576691-G-A
• MyVariant Identifiers: chr2:g.179441418G>A (hg19) ; chr2:g.178576691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576691G>A , CM000664.2:g.178576691G>A	GRCh38
NC_000002.11:g.179441418G>A , CM000664.1:g.179441418G>A	GRCh37
NC_000002.10:g.179149664G>A	NCBI36
NG_011618.3:g.259112C>T , LRG_391:g.259112C>T
NG_051363.1:g.58865G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.61849C>T (TTN)	ENSP00000343764.6:p.Arg20617Ter
ENST00000342175.11:c.42934C>T (TTN)	ENSP00000340554.6:p.Arg14312Ter
ENST00000359218.10:c.42733C>T (TTN)	ENSP00000352154.5:p.Arg14245Ter
ENST00000342175.10:c.42934C>T (TTN)	ENSP00000340554.6:p.Arg14312Ter
ENST00000342992.10:c.61849C>T (TTN)	ENSP00000343764.6:p.Arg20617Ter
ENST00000359218.9:c.42733C>T (TTN)	ENSP00000352154.5:p.Arg14245Ter
ENST00000460472.6:c.42358C>T (TTN)	ENSP00000434586.1:p.Arg14120Ter
ENST00000589042.5:c.69553C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg23185Ter
ENST00000591111.5:c.64630C>T (TTN)	ENSP00000465570.1:p.Arg21544Ter
ENST00000615779.4:c.64630C>T (TTN)	ENSP00000483597.1:p.Arg21544Ter
NM_001256850.1:c.64630C>T (TTN)	NP_001243779.1:p.Arg21544Ter
NM_001267550.2:c.69553C>T (TTN) MANE Select	NP_001254479.2:p.Arg23185Ter
NM_003319.4:c.42358C>T (TTN)	NP_003310.4:p.Arg14120Ter
NM_133378.4:c.61849C>T (TTN)	NP_596869.4:p.Arg20617Ter
NM_133432.3:c.42733C>T (TTN)	NP_597676.3:p.Arg14245Ter
NM_133437.4:c.42934C>T (TTN)	NP_597681.4:p.Arg14312Ter
NR_038271.1:n.596+5242G>A (TTN-AS1)
NR_038272.1:n.2044-5881G>A (TTN-AS1)
XM_011511729.1:c.68650C>T (TTN)	XP_011510031.1:p.Arg22884Ter
XM_011511730.1:c.42544C>T (TTN)	XP_011510032.1:p.Arg14182Ter
XM_011511731.1:c.42403C>T (TTN)	XP_011510033.1:p.Arg14135Ter
XM_017004819.1:c.68446C>T (TTN)	XP_016860308.1:p.Arg22816Ter
XM_017004820.1:c.63844C>T (TTN)	XP_016860309.1:p.Arg21282Ter
XM_017004821.1:c.63841C>T (TTN)	XP_016860310.1:p.Arg21281Ter
XM_017004822.1:c.60883C>T (TTN)	XP_016860311.1:p.Arg20295Ter
XM_017004823.1:c.42499C>T (TTN)	XP_016860312.1:p.Arg14167Ter
XM_024453094.1:c.63994C>T (TTN)	XP_024308862.1:p.Arg21332Ter
XM_024453095.1:c.63991C>T (TTN)	XP_024308863.1:p.Arg21331Ter
XM_024453096.1:c.63424C>T (TTN)	XP_024308864.1:p.Arg21142Ter
XM_024453097.1:c.60766C>T (TTN)	XP_024308865.1:p.Arg20256Ter
XM_024453098.1:c.60685C>T (TTN)	XP_024308866.1:p.Arg20229Ter
XM_024453099.1:c.42448C>T (TTN)	XP_024308867.1:p.Arg14150Ter
XM_024453100.1:c.32302C>T (TTN)	XP_024308868.1:p.Arg10768Ter