Canonical Allele Identifier: CA16610380

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405145
• ClinVar RCV Id: RCV001376851 ; RCV003237348 ; RCV004022555
• dbSNP Id: rs1060500575
• COSMIC: COSM6010472 ; COSM6010473 ; COSM6010474 ; COSM6010475
• MyVariant Identifiers: chr2:g.179440808G>A (hg19) ; chr2:g.178576081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576081G>A , CM000664.2:g.178576081G>A	GRCh38
NC_000002.11:g.179440808G>A , CM000664.1:g.179440808G>A	GRCh37
NC_000002.10:g.179149054G>A	NCBI36
NG_011618.3:g.259722C>T , LRG_391:g.259722C>T
NG_051363.1:g.58255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.62347C>T (TTN)	ENSP00000343764.6:p.Arg20783Ter
ENST00000342175.11:c.43432C>T (TTN)	ENSP00000340554.6:p.Arg14478Ter
ENST00000359218.10:c.43231C>T (TTN)	ENSP00000352154.5:p.Arg14411Ter
ENST00000342175.10:c.43432C>T (TTN)	ENSP00000340554.6:p.Arg14478Ter
ENST00000342992.10:c.62347C>T (TTN)	ENSP00000343764.6:p.Arg20783Ter
ENST00000359218.9:c.43231C>T (TTN)	ENSP00000352154.5:p.Arg14411Ter
ENST00000460472.6:c.42856C>T (TTN)	ENSP00000434586.1:p.Arg14286Ter
ENST00000589042.5:c.70051C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg23351Ter
ENST00000591111.5:c.65128C>T (TTN)	ENSP00000465570.1:p.Arg21710Ter
ENST00000615779.4:c.65128C>T (TTN)	ENSP00000483597.1:p.Arg21710Ter
NM_001256850.1:c.65128C>T (TTN)	NP_001243779.1:p.Arg21710Ter
NM_001267550.2:c.70051C>T (TTN) MANE Select	NP_001254479.2:p.Arg23351Ter
NM_003319.4:c.42856C>T (TTN)	NP_003310.4:p.Arg14286Ter
NM_133378.4:c.62347C>T (TTN)	NP_596869.4:p.Arg20783Ter
NM_133432.3:c.43231C>T (TTN)	NP_597676.3:p.Arg14411Ter
NM_133437.4:c.43432C>T (TTN)	NP_597681.4:p.Arg14478Ter
NR_038271.1:n.596+4632G>A (TTN-AS1)
NR_038272.1:n.2044-6491G>A (TTN-AS1)
XM_011511729.1:c.69148C>T (TTN)	XP_011510031.1:p.Arg23050Ter
XM_011511730.1:c.43042C>T (TTN)	XP_011510032.1:p.Arg14348Ter
XM_011511731.1:c.42901C>T (TTN)	XP_011510033.1:p.Arg14301Ter
XM_017004819.1:c.68944C>T (TTN)	XP_016860308.1:p.Arg22982Ter
XM_017004820.1:c.64342C>T (TTN)	XP_016860309.1:p.Arg21448Ter
XM_017004821.1:c.64339C>T (TTN)	XP_016860310.1:p.Arg21447Ter
XM_017004822.1:c.61381C>T (TTN)	XP_016860311.1:p.Arg20461Ter
XM_017004823.1:c.42997C>T (TTN)	XP_016860312.1:p.Arg14333Ter
XM_024453094.1:c.64492C>T (TTN)	XP_024308862.1:p.Arg21498Ter
XM_024453095.1:c.64489C>T (TTN)	XP_024308863.1:p.Arg21497Ter
XM_024453096.1:c.63922C>T (TTN)	XP_024308864.1:p.Arg21308Ter
XM_024453097.1:c.61264C>T (TTN)	XP_024308865.1:p.Arg20422Ter
XM_024453098.1:c.61183C>T (TTN)	XP_024308866.1:p.Arg20395Ter
XM_024453099.1:c.42946C>T (TTN)	XP_024308867.1:p.Arg14316Ter
XM_024453100.1:c.32800C>T (TTN)	XP_024308868.1:p.Arg10934Ter