Canonical Allele Identifier: CA349612419

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1192473018
• gnomAD v2: 2-179433740-C-T
• gnomAD v4: 2-178569013-C-T
• MyVariant Identifiers: chr2:g.179433740C>T (hg19) ; chr2:g.178569013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569013C>T , CM000664.2:g.178569013C>T	GRCh38
NC_000002.11:g.179433740C>T , CM000664.1:g.179433740C>T	GRCh37
NC_000002.10:g.179141986C>T	NCBI36
NG_011618.3:g.266790G>A , LRG_391:g.266790G>A
NG_051363.1:g.51187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69415G>A (TTN)	ENSP00000343764.6:p.Val23139Met
ENST00000342175.11:c.50500G>A (TTN)	ENSP00000340554.6:p.Val16834Met
ENST00000359218.10:c.50299G>A (TTN)	ENSP00000352154.5:p.Val16767Met
ENST00000342175.10:c.50500G>A (TTN)	ENSP00000340554.6:p.Val16834Met
ENST00000342992.10:c.69415G>A (TTN)	ENSP00000343764.6:p.Val23139Met
ENST00000359218.9:c.50299G>A (TTN)	ENSP00000352154.5:p.Val16767Met
ENST00000460472.6:c.49924G>A (TTN)	ENSP00000434586.1:p.Val16642Met
ENST00000589042.5:c.77119G>A (TTN) MANE Select	ENSP00000467141.1:p.Val25707Met
ENST00000591111.5:c.72196G>A (TTN)	ENSP00000465570.1:p.Val24066Met
ENST00000615779.4:c.72196G>A (TTN)	ENSP00000483597.1:p.Val24066Met
NM_001256850.1:c.72196G>A (TTN)	NP_001243779.1:p.Val24066Met
NM_001267550.2:c.77119G>A (TTN) MANE Select	NP_001254479.2:p.Val25707Met
NM_003319.4:c.49924G>A (TTN)	NP_003310.4:p.Val16642Met
NM_133378.4:c.69415G>A (TTN)	NP_596869.4:p.Val23139Met
NM_133432.3:c.50299G>A (TTN)	NP_597676.3:p.Val16767Met
NM_133437.4:c.50500G>A (TTN)	NP_597681.4:p.Val16834Met
NR_038271.1:n.447-2287C>T (TTN-AS1)
NR_038272.1:n.2044-13559C>T (TTN-AS1)
XM_011511729.1:c.76216G>A (TTN)	XP_011510031.1:p.Val25406Met
XM_011511730.1:c.50110G>A (TTN)	XP_011510032.1:p.Val16704Met
XM_011511731.1:c.49969G>A (TTN)	XP_011510033.1:p.Val16657Met
XM_017004819.1:c.76012G>A (TTN)	XP_016860308.1:p.Val25338Met
XM_017004820.1:c.71410G>A (TTN)	XP_016860309.1:p.Val23804Met
XM_017004821.1:c.71407G>A (TTN)	XP_016860310.1:p.Val23803Met
XM_017004822.1:c.68449G>A (TTN)	XP_016860311.1:p.Val22817Met
XM_017004823.1:c.50065G>A (TTN)	XP_016860312.1:p.Val16689Met
XM_024453094.1:c.71560G>A (TTN)	XP_024308862.1:p.Val23854Met
XM_024453095.1:c.71557G>A (TTN)	XP_024308863.1:p.Val23853Met
XM_024453096.1:c.70990G>A (TTN)	XP_024308864.1:p.Val23664Met
XM_024453097.1:c.68332G>A (TTN)	XP_024308865.1:p.Val22778Met
XM_024453098.1:c.68251G>A (TTN)	XP_024308866.1:p.Val22751Met
XM_024453099.1:c.50014G>A (TTN)	XP_024308867.1:p.Val16672Met
XM_024453100.1:c.39868G>A (TTN)	XP_024308868.1:p.Val13290Met