Canonical Allele Identifier: CA349411824

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532219-G-A
• COSMIC: COSM6010422 ; COSM6010423 ; COSM6010424 ; COSM6010425
• MyVariant Identifiers: chr2:g.179396946G>A (hg19) ; chr2:g.178532219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532219G>A , CM000664.2:g.178532219G>A	GRCh38
NC_000002.11:g.179396946G>A , CM000664.1:g.179396946G>A	GRCh37
NC_000002.10:g.179105192G>A	NCBI36
NG_011618.3:g.303584C>T , LRG_391:g.303584C>T
NG_051363.1:g.14393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96692C>T (TTN)	ENSP00000343764.6:p.Ser32231Phe
ENST00000342175.11:c.77777C>T (TTN)	ENSP00000340554.6:p.Ser25926Phe
ENST00000359218.10:c.77576C>T (TTN)	ENSP00000352154.5:p.Ser25859Phe
ENST00000342175.10:c.77777C>T (TTN)	ENSP00000340554.6:p.Ser25926Phe
ENST00000342992.10:c.96692C>T (TTN)	ENSP00000343764.6:p.Ser32231Phe
ENST00000359218.9:c.77576C>T (TTN)	ENSP00000352154.5:p.Ser25859Phe
ENST00000460472.6:c.77201C>T (TTN)	ENSP00000434586.1:p.Ser25734Phe
ENST00000589042.5:c.104396C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser34799Phe
ENST00000591111.5:c.99473C>T (TTN)	ENSP00000465570.1:p.Ser33158Phe
ENST00000615779.4:c.99473C>T (TTN)	ENSP00000483597.1:p.Ser33158Phe
NM_001256850.1:c.99473C>T (TTN)	NP_001243779.1:p.Ser33158Phe
NM_001267550.2:c.104396C>T (TTN) MANE Select	NP_001254479.2:p.Ser34799Phe
NM_003319.4:c.77201C>T (TTN)	NP_003310.4:p.Ser25734Phe
NM_133378.4:c.96692C>T (TTN)	NP_596869.4:p.Ser32231Phe
NM_133432.3:c.77576C>T (TTN)	NP_597676.3:p.Ser25859Phe
NM_133437.4:c.77777C>T (TTN)	NP_597681.4:p.Ser25926Phe
NR_038271.1:n.446+8583G>A (TTN-AS1)
NR_038272.1:n.220-3513G>A (TTN-AS1)
XM_011511729.1:c.103493C>T (TTN)	XP_011510031.1:p.Ser34498Phe
XM_011511730.1:c.77387C>T (TTN)	XP_011510032.1:p.Ser25796Phe
XM_011511731.1:c.77246C>T (TTN)	XP_011510033.1:p.Ser25749Phe
XM_017004819.1:c.103289C>T (TTN)	XP_016860308.1:p.Ser34430Phe
XM_017004820.1:c.98687C>T (TTN)	XP_016860309.1:p.Ser32896Phe
XM_017004821.1:c.98684C>T (TTN)	XP_016860310.1:p.Ser32895Phe
XM_017004822.1:c.95726C>T (TTN)	XP_016860311.1:p.Ser31909Phe
XM_017004823.1:c.77342C>T (TTN)	XP_016860312.1:p.Ser25781Phe
XM_024453094.1:c.98837C>T (TTN)	XP_024308862.1:p.Ser32946Phe
XM_024453095.1:c.98834C>T (TTN)	XP_024308863.1:p.Ser32945Phe
XM_024453096.1:c.98267C>T (TTN)	XP_024308864.1:p.Ser32756Phe
XM_024453097.1:c.95609C>T (TTN)	XP_024308865.1:p.Ser31870Phe
XM_024453098.1:c.95528C>T (TTN)	XP_024308866.1:p.Ser31843Phe
XM_024453099.1:c.77291C>T (TTN)	XP_024308867.1:p.Ser25764Phe
XM_024453100.1:c.67145C>T (TTN)	XP_024308868.1:p.Ser22382Phe