Canonical Allele Identifier: CA349406274

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530320-G-A
• COSMIC: COSM5938026 ; COSM5938027 ; COSM5938028 ; COSM5938029
• MyVariant Identifiers: chr2:g.179395047G>A (hg19) ; chr2:g.178530320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530320G>A , CM000664.2:g.178530320G>A	GRCh38
NC_000002.11:g.179395047G>A , CM000664.1:g.179395047G>A	GRCh37
NC_000002.10:g.179103293G>A	NCBI36
NG_011618.3:g.305483C>T , LRG_391:g.305483C>T
NG_051363.1:g.12494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98591C>T (TTN)	ENSP00000343764.6:p.Ser32864Phe
ENST00000342175.11:c.79676C>T (TTN)	ENSP00000340554.6:p.Ser26559Phe
ENST00000359218.10:c.79475C>T (TTN)	ENSP00000352154.5:p.Ser26492Phe
ENST00000342175.10:c.79676C>T (TTN)	ENSP00000340554.6:p.Ser26559Phe
ENST00000342992.10:c.98591C>T (TTN)	ENSP00000343764.6:p.Ser32864Phe
ENST00000359218.9:c.79475C>T (TTN)	ENSP00000352154.5:p.Ser26492Phe
ENST00000460472.6:c.79100C>T (TTN)	ENSP00000434586.1:p.Ser26367Phe
ENST00000589042.5:c.106295C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser35432Phe
ENST00000591111.5:c.101372C>T (TTN)	ENSP00000465570.1:p.Ser33791Phe
ENST00000615779.4:c.101372C>T (TTN)	ENSP00000483597.1:p.Ser33791Phe
NM_001256850.1:c.101372C>T (TTN)	NP_001243779.1:p.Ser33791Phe
NM_001267550.2:c.106295C>T (TTN) MANE Select	NP_001254479.2:p.Ser35432Phe
NM_003319.4:c.79100C>T (TTN)	NP_003310.4:p.Ser26367Phe
NM_133378.4:c.98591C>T (TTN)	NP_596869.4:p.Ser32864Phe
NM_133432.3:c.79475C>T (TTN)	NP_597676.3:p.Ser26492Phe
NM_133437.4:c.79676C>T (TTN)	NP_597681.4:p.Ser26559Phe
NR_038271.1:n.446+6684G>A (TTN-AS1)
NR_038272.1:n.220-5412G>A (TTN-AS1)
XM_011511729.1:c.105392C>T (TTN)	XP_011510031.1:p.Ser35131Phe
XM_011511730.1:c.79286C>T (TTN)	XP_011510032.1:p.Ser26429Phe
XM_011511731.1:c.79145C>T (TTN)	XP_011510033.1:p.Ser26382Phe
XM_017004819.1:c.105188C>T (TTN)	XP_016860308.1:p.Ser35063Phe
XM_017004820.1:c.100586C>T (TTN)	XP_016860309.1:p.Ser33529Phe
XM_017004821.1:c.100583C>T (TTN)	XP_016860310.1:p.Ser33528Phe
XM_017004822.1:c.97625C>T (TTN)	XP_016860311.1:p.Ser32542Phe
XM_017004823.1:c.79241C>T (TTN)	XP_016860312.1:p.Ser26414Phe
XM_024453094.1:c.100736C>T (TTN)	XP_024308862.1:p.Ser33579Phe
XM_024453095.1:c.100733C>T (TTN)	XP_024308863.1:p.Ser33578Phe
XM_024453096.1:c.100166C>T (TTN)	XP_024308864.1:p.Ser33389Phe
XM_024453097.1:c.97508C>T (TTN)	XP_024308865.1:p.Ser32503Phe
XM_024453098.1:c.97427C>T (TTN)	XP_024308866.1:p.Ser32476Phe
XM_024453099.1:c.79190C>T (TTN)	XP_024308867.1:p.Ser26397Phe
XM_024453100.1:c.69044C>T (TTN)	XP_024308868.1:p.Ser23015Phe