Canonical Allele Identifier: CA349406988

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395220A>T (hg19) ; chr2:g.178530493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530493A>T , CM000664.2:g.178530493A>T	GRCh38
NC_000002.11:g.179395220A>T , CM000664.1:g.179395220A>T	GRCh37
NC_000002.10:g.179103466A>T	NCBI36
NG_011618.3:g.305310T>A , LRG_391:g.305310T>A
NG_051363.1:g.12667A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98418T>A (TTN)	ENSP00000343764.6:p.Phe32806Leu
ENST00000342175.11:c.79503T>A (TTN)	ENSP00000340554.6:p.Phe26501Leu
ENST00000359218.10:c.79302T>A (TTN)	ENSP00000352154.5:p.Phe26434Leu
ENST00000342175.10:c.79503T>A (TTN)	ENSP00000340554.6:p.Phe26501Leu
ENST00000342992.10:c.98418T>A (TTN)	ENSP00000343764.6:p.Phe32806Leu
ENST00000359218.9:c.79302T>A (TTN)	ENSP00000352154.5:p.Phe26434Leu
ENST00000460472.6:c.78927T>A (TTN)	ENSP00000434586.1:p.Phe26309Leu
ENST00000589042.5:c.106122T>A (TTN) MANE Select	ENSP00000467141.1:p.Phe35374Leu
ENST00000591111.5:c.101199T>A (TTN)	ENSP00000465570.1:p.Phe33733Leu
ENST00000615779.4:c.101199T>A (TTN)	ENSP00000483597.1:p.Phe33733Leu
NM_001256850.1:c.101199T>A (TTN)	NP_001243779.1:p.Phe33733Leu
NM_001267550.2:c.106122T>A (TTN) MANE Select	NP_001254479.2:p.Phe35374Leu
NM_003319.4:c.78927T>A (TTN)	NP_003310.4:p.Phe26309Leu
NM_133378.4:c.98418T>A (TTN)	NP_596869.4:p.Phe32806Leu
NM_133432.3:c.79302T>A (TTN)	NP_597676.3:p.Phe26434Leu
NM_133437.4:c.79503T>A (TTN)	NP_597681.4:p.Phe26501Leu
NR_038271.1:n.446+6857A>T (TTN-AS1)
NR_038272.1:n.220-5239A>T (TTN-AS1)
XM_011511729.1:c.105219T>A (TTN)	XP_011510031.1:p.Phe35073Leu
XM_011511730.1:c.79113T>A (TTN)	XP_011510032.1:p.Phe26371Leu
XM_011511731.1:c.78972T>A (TTN)	XP_011510033.1:p.Phe26324Leu
XM_017004819.1:c.105015T>A (TTN)	XP_016860308.1:p.Phe35005Leu
XM_017004820.1:c.100413T>A (TTN)	XP_016860309.1:p.Phe33471Leu
XM_017004821.1:c.100410T>A (TTN)	XP_016860310.1:p.Phe33470Leu
XM_017004822.1:c.97452T>A (TTN)	XP_016860311.1:p.Phe32484Leu
XM_017004823.1:c.79068T>A (TTN)	XP_016860312.1:p.Phe26356Leu
XM_024453094.1:c.100563T>A (TTN)	XP_024308862.1:p.Phe33521Leu
XM_024453095.1:c.100560T>A (TTN)	XP_024308863.1:p.Phe33520Leu
XM_024453096.1:c.99993T>A (TTN)	XP_024308864.1:p.Phe33331Leu
XM_024453097.1:c.97335T>A (TTN)	XP_024308865.1:p.Phe32445Leu
XM_024453098.1:c.97254T>A (TTN)	XP_024308866.1:p.Phe32418Leu
XM_024453099.1:c.79017T>A (TTN)	XP_024308867.1:p.Phe26339Leu
XM_024453100.1:c.68871T>A (TTN)	XP_024308868.1:p.Phe22957Leu