Canonical Allele Identifier: CA349496605

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178593057-C-G
• MyVariant Identifiers: chr2:g.179457784C>G (hg19) ; chr2:g.178593057C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593057C>G , CM000664.2:g.178593057C>G	GRCh38
NC_000002.11:g.179457784C>G , CM000664.1:g.179457784C>G	GRCh37
NC_000002.10:g.179166030C>G	NCBI36
NG_011618.3:g.242746G>C , LRG_391:g.242746G>C
NG_051363.1:g.75231C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51358G>C (TTN)	ENSP00000343764.6:p.Glu17120Gln
ENST00000342175.11:c.32443G>C (TTN)	ENSP00000340554.6:p.Glu10815Gln
ENST00000359218.10:c.32242G>C (TTN)	ENSP00000352154.5:p.Glu10748Gln
ENST00000342175.10:c.32443G>C (TTN)	ENSP00000340554.6:p.Glu10815Gln
ENST00000342992.10:c.51358G>C (TTN)	ENSP00000343764.6:p.Glu17120Gln
ENST00000359218.9:c.32242G>C (TTN)	ENSP00000352154.5:p.Glu10748Gln
ENST00000460472.6:c.31867G>C (TTN)	ENSP00000434586.1:p.Glu10623Gln
ENST00000589042.5:c.59062G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu19688Gln
ENST00000591111.5:c.54139G>C (TTN)	ENSP00000465570.1:p.Glu18047Gln
ENST00000615779.4:c.54139G>C (TTN)	ENSP00000483597.1:p.Glu18047Gln
NM_001256850.1:c.54139G>C (TTN)	NP_001243779.1:p.Glu18047Gln
NM_001267550.2:c.59062G>C (TTN) MANE Select	NP_001254479.2:p.Glu19688Gln
NM_003319.4:c.31867G>C (TTN)	NP_003310.4:p.Glu10623Gln
NM_133378.4:c.51358G>C (TTN)	NP_596869.4:p.Glu17120Gln
NM_133432.3:c.32242G>C (TTN)	NP_597676.3:p.Glu10748Gln
NM_133437.4:c.32443G>C (TTN)	NP_597681.4:p.Glu10815Gln
NR_038271.1:n.597-4539C>G (TTN-AS1)
NR_038272.1:n.3364+1743C>G (TTN-AS1)
XM_011511729.1:c.58159G>C (TTN)	XP_011510031.1:p.Glu19387Gln
XM_011511730.1:c.32053G>C (TTN)	XP_011510032.1:p.Glu10685Gln
XM_011511731.1:c.31912G>C (TTN)	XP_011510033.1:p.Glu10638Gln
XM_017004819.1:c.57955G>C (TTN)	XP_016860308.1:p.Glu19319Gln
XM_017004820.1:c.53353G>C (TTN)	XP_016860309.1:p.Glu17785Gln
XM_017004821.1:c.53350G>C (TTN)	XP_016860310.1:p.Glu17784Gln
XM_017004822.1:c.50392G>C (TTN)	XP_016860311.1:p.Glu16798Gln
XM_017004823.1:c.32008G>C (TTN)	XP_016860312.1:p.Glu10670Gln
XM_024453094.1:c.53503G>C (TTN)	XP_024308862.1:p.Glu17835Gln
XM_024453095.1:c.53500G>C (TTN)	XP_024308863.1:p.Glu17834Gln
XM_024453096.1:c.52933G>C (TTN)	XP_024308864.1:p.Glu17645Gln
XM_024453097.1:c.50275G>C (TTN)	XP_024308865.1:p.Glu16759Gln
XM_024453098.1:c.50194G>C (TTN)	XP_024308866.1:p.Glu16732Gln
XM_024453099.1:c.31957G>C (TTN)	XP_024308867.1:p.Glu10653Gln
XM_024453100.1:c.21811G>C (TTN)	XP_024308868.1:p.Glu7271Gln