Canonical Allele Identifier: CA309299

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202400
• ClinVar RCV Id: RCV000184254 ; RCV002516945
• dbSNP Id: rs794729281
• gnomAD v4: 2-178577085-G-A
• COSMIC: COSM3728372 ; COSM3728373 ; COSM3728374 ; COSM3728375
• MyVariant Identifiers: chr2:g.179441812G>A (hg19) ; chr2:g.178577085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577085G>A , CM000664.2:g.178577085G>A	GRCh38
NC_000002.11:g.179441812G>A , CM000664.1:g.179441812G>A	GRCh37
NC_000002.10:g.179150058G>A	NCBI36
NG_011618.3:g.258718C>T , LRG_391:g.258718C>T
NG_051363.1:g.59259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.61546C>T (TTN)	ENSP00000343764.6:p.Arg20516Ter
ENST00000342175.11:c.42631C>T (TTN)	ENSP00000340554.6:p.Arg14211Ter
ENST00000359218.10:c.42430C>T (TTN)	ENSP00000352154.5:p.Arg14144Ter
ENST00000342175.10:c.42631C>T (TTN)	ENSP00000340554.6:p.Arg14211Ter
ENST00000342992.10:c.61546C>T (TTN)	ENSP00000343764.6:p.Arg20516Ter
ENST00000359218.9:c.42430C>T (TTN)	ENSP00000352154.5:p.Arg14144Ter
ENST00000460472.6:c.42055C>T (TTN)	ENSP00000434586.1:p.Arg14019Ter
ENST00000589042.5:c.69250C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg23084Ter
ENST00000591111.5:c.64327C>T (TTN)	ENSP00000465570.1:p.Arg21443Ter
ENST00000615779.4:c.64327C>T (TTN)	ENSP00000483597.1:p.Arg21443Ter
NM_001256850.1:c.64327C>T (TTN)	NP_001243779.1:p.Arg21443Ter
NM_001267550.2:c.69250C>T (TTN) MANE Select	NP_001254479.2:p.Arg23084Ter
NM_003319.4:c.42055C>T (TTN)	NP_003310.4:p.Arg14019Ter
NM_133378.4:c.61546C>T (TTN)	NP_596869.4:p.Arg20516Ter
NM_133432.3:c.42430C>T (TTN)	NP_597676.3:p.Arg14144Ter
NM_133437.4:c.42631C>T (TTN)	NP_597681.4:p.Arg14211Ter
NR_038271.1:n.596+5636G>A (TTN-AS1)
NR_038272.1:n.2044-5487G>A (TTN-AS1)
XM_011511729.1:c.68347C>T (TTN)	XP_011510031.1:p.Arg22783Ter
XM_011511730.1:c.42241C>T (TTN)	XP_011510032.1:p.Arg14081Ter
XM_011511731.1:c.42100C>T (TTN)	XP_011510033.1:p.Arg14034Ter
XM_017004819.1:c.68143C>T (TTN)	XP_016860308.1:p.Arg22715Ter
XM_017004820.1:c.63541C>T (TTN)	XP_016860309.1:p.Arg21181Ter
XM_017004821.1:c.63538C>T (TTN)	XP_016860310.1:p.Arg21180Ter
XM_017004822.1:c.60580C>T (TTN)	XP_016860311.1:p.Arg20194Ter
XM_017004823.1:c.42196C>T (TTN)	XP_016860312.1:p.Arg14066Ter
XM_024453094.1:c.63691C>T (TTN)	XP_024308862.1:p.Arg21231Ter
XM_024453095.1:c.63688C>T (TTN)	XP_024308863.1:p.Arg21230Ter
XM_024453096.1:c.63121C>T (TTN)	XP_024308864.1:p.Arg21041Ter
XM_024453097.1:c.60463C>T (TTN)	XP_024308865.1:p.Arg20155Ter
XM_024453098.1:c.60382C>T (TTN)	XP_024308866.1:p.Arg20128Ter
XM_024453099.1:c.42145C>T (TTN)	XP_024308867.1:p.Arg14049Ter
XM_024453100.1:c.31999C>T (TTN)	XP_024308868.1:p.Arg10667Ter