Canonical Allele Identifier: CA349616353

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434612T>A (hg19) ; chr2:g.178569885T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569885T>A , CM000664.2:g.178569885T>A	GRCh38
NC_000002.11:g.179434612T>A , CM000664.1:g.179434612T>A	GRCh37
NC_000002.10:g.179142858T>A	NCBI36
NG_011618.3:g.265918A>T , LRG_391:g.265918A>T
NG_051363.1:g.52059T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68543A>T (TTN)	ENSP00000343764.6:p.Asp22848Val
ENST00000342175.11:c.49628A>T (TTN)	ENSP00000340554.6:p.Asp16543Val
ENST00000359218.10:c.49427A>T (TTN)	ENSP00000352154.5:p.Asp16476Val
ENST00000342175.10:c.49628A>T (TTN)	ENSP00000340554.6:p.Asp16543Val
ENST00000342992.10:c.68543A>T (TTN)	ENSP00000343764.6:p.Asp22848Val
ENST00000359218.9:c.49427A>T (TTN)	ENSP00000352154.5:p.Asp16476Val
ENST00000460472.6:c.49052A>T (TTN)	ENSP00000434586.1:p.Asp16351Val
ENST00000589042.5:c.76247A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp25416Val
ENST00000591111.5:c.71324A>T (TTN)	ENSP00000465570.1:p.Asp23775Val
ENST00000615779.4:c.71324A>T (TTN)	ENSP00000483597.1:p.Asp23775Val
NM_001256850.1:c.71324A>T (TTN)	NP_001243779.1:p.Asp23775Val
NM_001267550.2:c.76247A>T (TTN) MANE Select	NP_001254479.2:p.Asp25416Val
NM_003319.4:c.49052A>T (TTN)	NP_003310.4:p.Asp16351Val
NM_133378.4:c.68543A>T (TTN)	NP_596869.4:p.Asp22848Val
NM_133432.3:c.49427A>T (TTN)	NP_597676.3:p.Asp16476Val
NM_133437.4:c.49628A>T (TTN)	NP_597681.4:p.Asp16543Val
NR_038271.1:n.447-1415T>A (TTN-AS1)
NR_038272.1:n.2044-12687T>A (TTN-AS1)
XM_011511729.1:c.75344A>T (TTN)	XP_011510031.1:p.Asp25115Val
XM_011511730.1:c.49238A>T (TTN)	XP_011510032.1:p.Asp16413Val
XM_011511731.1:c.49097A>T (TTN)	XP_011510033.1:p.Asp16366Val
XM_017004819.1:c.75140A>T (TTN)	XP_016860308.1:p.Asp25047Val
XM_017004820.1:c.70538A>T (TTN)	XP_016860309.1:p.Asp23513Val
XM_017004821.1:c.70535A>T (TTN)	XP_016860310.1:p.Asp23512Val
XM_017004822.1:c.67577A>T (TTN)	XP_016860311.1:p.Asp22526Val
XM_017004823.1:c.49193A>T (TTN)	XP_016860312.1:p.Asp16398Val
XM_024453094.1:c.70688A>T (TTN)	XP_024308862.1:p.Asp23563Val
XM_024453095.1:c.70685A>T (TTN)	XP_024308863.1:p.Asp23562Val
XM_024453096.1:c.70118A>T (TTN)	XP_024308864.1:p.Asp23373Val
XM_024453097.1:c.67460A>T (TTN)	XP_024308865.1:p.Asp22487Val
XM_024453098.1:c.67379A>T (TTN)	XP_024308866.1:p.Asp22460Val
XM_024453099.1:c.49142A>T (TTN)	XP_024308867.1:p.Asp16381Val
XM_024453100.1:c.38996A>T (TTN)	XP_024308868.1:p.Asp12999Val