Canonical Allele Identifier: CA349581118

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1348567940
• gnomAD v2: 2-179429240-C-T
• gnomAD v4: 2-178564513-C-T
• MyVariant Identifiers: chr2:g.179429240C>T (hg19) ; chr2:g.178564513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564513C>T , CM000664.2:g.178564513C>T	GRCh38
NC_000002.11:g.179429240C>T , CM000664.1:g.179429240C>T	GRCh37
NC_000002.10:g.179137486C>T	NCBI36
NG_011618.3:g.271290G>A , LRG_391:g.271290G>A
NG_051363.1:g.46687C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73915G>A (TTN)	ENSP00000343764.6:p.Val24639Ile
ENST00000342175.11:c.55000G>A (TTN)	ENSP00000340554.6:p.Val18334Ile
ENST00000359218.10:c.54799G>A (TTN)	ENSP00000352154.5:p.Val18267Ile
ENST00000342175.10:c.55000G>A (TTN)	ENSP00000340554.6:p.Val18334Ile
ENST00000342992.10:c.73915G>A (TTN)	ENSP00000343764.6:p.Val24639Ile
ENST00000359218.9:c.54799G>A (TTN)	ENSP00000352154.5:p.Val18267Ile
ENST00000460472.6:c.54424G>A (TTN)	ENSP00000434586.1:p.Val18142Ile
ENST00000589042.5:c.81619G>A (TTN) MANE Select	ENSP00000467141.1:p.Val27207Ile
ENST00000591111.5:c.76696G>A (TTN)	ENSP00000465570.1:p.Val25566Ile
ENST00000615779.4:c.76696G>A (TTN)	ENSP00000483597.1:p.Val25566Ile
NM_001256850.1:c.76696G>A (TTN)	NP_001243779.1:p.Val25566Ile
NM_001267550.2:c.81619G>A (TTN) MANE Select	NP_001254479.2:p.Val27207Ile
NM_003319.4:c.54424G>A (TTN)	NP_003310.4:p.Val18142Ile
NM_133378.4:c.73915G>A (TTN)	NP_596869.4:p.Val24639Ile
NM_133432.3:c.54799G>A (TTN)	NP_597676.3:p.Val18267Ile
NM_133437.4:c.55000G>A (TTN)	NP_597681.4:p.Val18334Ile
NR_038271.1:n.447-6787C>T (TTN-AS1)
NR_038272.1:n.2044-18059C>T (TTN-AS1)
XM_011511729.1:c.80716G>A (TTN)	XP_011510031.1:p.Val26906Ile
XM_011511730.1:c.54610G>A (TTN)	XP_011510032.1:p.Val18204Ile
XM_011511731.1:c.54469G>A (TTN)	XP_011510033.1:p.Val18157Ile
XM_017004819.1:c.80512G>A (TTN)	XP_016860308.1:p.Val26838Ile
XM_017004820.1:c.75910G>A (TTN)	XP_016860309.1:p.Val25304Ile
XM_017004821.1:c.75907G>A (TTN)	XP_016860310.1:p.Val25303Ile
XM_017004822.1:c.72949G>A (TTN)	XP_016860311.1:p.Val24317Ile
XM_017004823.1:c.54565G>A (TTN)	XP_016860312.1:p.Val18189Ile
XM_024453094.1:c.76060G>A (TTN)	XP_024308862.1:p.Val25354Ile
XM_024453095.1:c.76057G>A (TTN)	XP_024308863.1:p.Val25353Ile
XM_024453096.1:c.75490G>A (TTN)	XP_024308864.1:p.Val25164Ile
XM_024453097.1:c.72832G>A (TTN)	XP_024308865.1:p.Val24278Ile
XM_024453098.1:c.72751G>A (TTN)	XP_024308866.1:p.Val24251Ile
XM_024453099.1:c.54514G>A (TTN)	XP_024308867.1:p.Val18172Ile
XM_024453100.1:c.44368G>A (TTN)	XP_024308868.1:p.Val14790Ile