Canonical Allele Identifier: CA349556213

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466638
• ClinVar RCV Id: RCV002438392 ; RCV003314612 ; RCV001388242
• dbSNP Id: rs1553682168
• gnomAD v4: 2-178605110-G-A
• COSMIC: COSM5343876 ; COSM5343877 ; COSM5343878 ; COSM5343879
• MyVariant Identifiers: chr2:g.179469837G>A (hg19) ; chr2:g.178605110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178605110G>A , CM000664.2:g.178605110G>A	GRCh38
NC_000002.11:g.179469837G>A , CM000664.1:g.179469837G>A	GRCh37
NC_000002.10:g.179178082G>A	NCBI36
NG_011618.3:g.230693C>T , LRG_391:g.230693C>T
NG_051363.1:g.87284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46363C>T (TTN)	ENSP00000343764.6:p.Arg15455Ter
ENST00000342175.11:c.27448C>T (TTN)	ENSP00000340554.6:p.Arg9150Ter
ENST00000359218.10:c.27247C>T (TTN)	ENSP00000352154.5:p.Arg9083Ter
ENST00000342175.10:c.27448C>T (TTN)	ENSP00000340554.6:p.Arg9150Ter
ENST00000342992.10:c.46363C>T (TTN)	ENSP00000343764.6:p.Arg15455Ter
ENST00000359218.9:c.27247C>T (TTN)	ENSP00000352154.5:p.Arg9083Ter
ENST00000460472.6:c.26872C>T (TTN)	ENSP00000434586.1:p.Arg8958Ter
ENST00000589042.5:c.54067C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg18023Ter
ENST00000591111.5:c.49144C>T (TTN)	ENSP00000465570.1:p.Arg16382Ter
ENST00000615779.4:c.49144C>T (TTN)	ENSP00000483597.1:p.Arg16382Ter
NM_001256850.1:c.49144C>T (TTN)	NP_001243779.1:p.Arg16382Ter
NM_001267550.2:c.54067C>T (TTN) MANE Select	NP_001254479.2:p.Arg18023Ter
NM_003319.4:c.26872C>T (TTN)	NP_003310.4:p.Arg8958Ter
NM_133378.4:c.46363C>T (TTN)	NP_596869.4:p.Arg15455Ter
NM_133432.3:c.27247C>T (TTN)	NP_597676.3:p.Arg9083Ter
NM_133437.4:c.27448C>T (TTN)	NP_597681.4:p.Arg9150Ter
NR_038271.1:n.683-3057G>A (TTN-AS1)
NR_038272.1:n.4297G>A (TTN-AS1)
XM_011511729.1:c.53164C>T (TTN)	XP_011510031.1:p.Arg17722Ter
XM_011511730.1:c.27058C>T (TTN)	XP_011510032.1:p.Arg9020Ter
XM_011511731.1:c.26917C>T (TTN)	XP_011510033.1:p.Arg8973Ter
XM_017004819.1:c.52960C>T (TTN)	XP_016860308.1:p.Arg17654Ter
XM_017004820.1:c.48358C>T (TTN)	XP_016860309.1:p.Arg16120Ter
XM_017004821.1:c.48355C>T (TTN)	XP_016860310.1:p.Arg16119Ter
XM_017004822.1:c.45397C>T (TTN)	XP_016860311.1:p.Arg15133Ter
XM_017004823.1:c.27013C>T (TTN)	XP_016860312.1:p.Arg9005Ter
XM_024453094.1:c.48508C>T (TTN)	XP_024308862.1:p.Arg16170Ter
XM_024453095.1:c.48505C>T (TTN)	XP_024308863.1:p.Arg16169Ter
XM_024453096.1:c.47938C>T (TTN)	XP_024308864.1:p.Arg15980Ter
XM_024453097.1:c.45280C>T (TTN)	XP_024308865.1:p.Arg15094Ter
XM_024453098.1:c.45199C>T (TTN)	XP_024308866.1:p.Arg15067Ter
XM_024453099.1:c.26962C>T (TTN)	XP_024308867.1:p.Arg8988Ter
XM_024453100.1:c.16816C>T (TTN)	XP_024308868.1:p.Arg5606Ter