Canonical Allele Identifier: CA349610715

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1246528312
• gnomAD v2: 2-179433467-G-T
• gnomAD v4: 2-178568740-G-T
• MyVariant Identifiers: chr2:g.179433467G>T (hg19) ; chr2:g.178568740G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568740G>T , CM000664.2:g.178568740G>T	GRCh38
NC_000002.11:g.179433467G>T , CM000664.1:g.179433467G>T	GRCh37
NC_000002.10:g.179141713G>T	NCBI36
NG_011618.3:g.267063C>A , LRG_391:g.267063C>A
NG_051363.1:g.50914G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69688C>A (TTN)	ENSP00000343764.6:p.Pro23230Thr
ENST00000342175.11:c.50773C>A (TTN)	ENSP00000340554.6:p.Pro16925Thr
ENST00000359218.10:c.50572C>A (TTN)	ENSP00000352154.5:p.Pro16858Thr
ENST00000342175.10:c.50773C>A (TTN)	ENSP00000340554.6:p.Pro16925Thr
ENST00000342992.10:c.69688C>A (TTN)	ENSP00000343764.6:p.Pro23230Thr
ENST00000359218.9:c.50572C>A (TTN)	ENSP00000352154.5:p.Pro16858Thr
ENST00000460472.6:c.50197C>A (TTN)	ENSP00000434586.1:p.Pro16733Thr
ENST00000589042.5:c.77392C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro25798Thr
ENST00000591111.5:c.72469C>A (TTN)	ENSP00000465570.1:p.Pro24157Thr
ENST00000615779.4:c.72469C>A (TTN)	ENSP00000483597.1:p.Pro24157Thr
NM_001256850.1:c.72469C>A (TTN)	NP_001243779.1:p.Pro24157Thr
NM_001267550.2:c.77392C>A (TTN) MANE Select	NP_001254479.2:p.Pro25798Thr
NM_003319.4:c.50197C>A (TTN)	NP_003310.4:p.Pro16733Thr
NM_133378.4:c.69688C>A (TTN)	NP_596869.4:p.Pro23230Thr
NM_133432.3:c.50572C>A (TTN)	NP_597676.3:p.Pro16858Thr
NM_133437.4:c.50773C>A (TTN)	NP_597681.4:p.Pro16925Thr
NR_038271.1:n.447-2560G>T (TTN-AS1)
NR_038272.1:n.2044-13832G>T (TTN-AS1)
XM_011511729.1:c.76489C>A (TTN)	XP_011510031.1:p.Pro25497Thr
XM_011511730.1:c.50383C>A (TTN)	XP_011510032.1:p.Pro16795Thr
XM_011511731.1:c.50242C>A (TTN)	XP_011510033.1:p.Pro16748Thr
XM_017004819.1:c.76285C>A (TTN)	XP_016860308.1:p.Pro25429Thr
XM_017004820.1:c.71683C>A (TTN)	XP_016860309.1:p.Pro23895Thr
XM_017004821.1:c.71680C>A (TTN)	XP_016860310.1:p.Pro23894Thr
XM_017004822.1:c.68722C>A (TTN)	XP_016860311.1:p.Pro22908Thr
XM_017004823.1:c.50338C>A (TTN)	XP_016860312.1:p.Pro16780Thr
XM_024453094.1:c.71833C>A (TTN)	XP_024308862.1:p.Pro23945Thr
XM_024453095.1:c.71830C>A (TTN)	XP_024308863.1:p.Pro23944Thr
XM_024453096.1:c.71263C>A (TTN)	XP_024308864.1:p.Pro23755Thr
XM_024453097.1:c.68605C>A (TTN)	XP_024308865.1:p.Pro22869Thr
XM_024453098.1:c.68524C>A (TTN)	XP_024308866.1:p.Pro22842Thr
XM_024453099.1:c.50287C>A (TTN)	XP_024308867.1:p.Pro16763Thr
XM_024453100.1:c.40141C>A (TTN)	XP_024308868.1:p.Pro13381Thr