Canonical Allele Identifier: CA349618402

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2057673756
• gnomAD v3: 2-178618079-C-T
• gnomAD v4: 2-178618079-C-T
• MyVariant Identifiers: chr2:g.179482806C>T (hg19) ; chr2:g.178618079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618079C>T , CM000664.2:g.178618079C>T	GRCh38
NC_000002.11:g.179482806C>T , CM000664.1:g.179482806C>T	GRCh37
NC_000002.10:g.179191051C>T	NCBI36
NG_011618.3:g.217724G>A , LRG_391:g.217724G>A
NG_051363.1:g.100253C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39568G>A (TTN)	ENSP00000343764.6:p.Val13190Ile
ENST00000342175.11:c.20653G>A (TTN)	ENSP00000340554.6:p.Val6885Ile
ENST00000359218.10:c.20452G>A (TTN)	ENSP00000352154.5:p.Val6818Ile
ENST00000342175.10:c.20653G>A (TTN)	ENSP00000340554.6:p.Val6885Ile
ENST00000342992.10:c.39568G>A (TTN)	ENSP00000343764.6:p.Val13190Ile
ENST00000359218.9:c.20452G>A (TTN)	ENSP00000352154.5:p.Val6818Ile
ENST00000460472.6:c.20077G>A (TTN)	ENSP00000434586.1:p.Val6693Ile
ENST00000589042.5:c.47272G>A (TTN) MANE Select	ENSP00000467141.1:p.Val15758Ile
ENST00000591111.5:c.42349G>A (TTN)	ENSP00000465570.1:p.Val14117Ile
ENST00000615779.4:c.42349G>A (TTN)	ENSP00000483597.1:p.Val14117Ile
NM_001256850.1:c.42349G>A (TTN)	NP_001243779.1:p.Val14117Ile
NM_001267550.2:c.47272G>A (TTN) MANE Select	NP_001254479.2:p.Val15758Ile
NM_003319.4:c.20077G>A (TTN)	NP_003310.4:p.Val6693Ile
NM_133378.4:c.39568G>A (TTN)	NP_596869.4:p.Val13190Ile
NM_133432.3:c.20452G>A (TTN)	NP_597676.3:p.Val6818Ile
NM_133437.4:c.20653G>A (TTN)	NP_597681.4:p.Val6885Ile
NR_038271.1:n.1605-1674C>T (TTN-AS1)
XM_011511729.1:c.46369G>A (TTN)	XP_011510031.1:p.Val15457Ile
XM_011511730.1:c.20263G>A (TTN)	XP_011510032.1:p.Val6755Ile
XM_011511731.1:c.20122G>A (TTN)	XP_011510033.1:p.Val6708Ile
XM_017004819.1:c.46165G>A (TTN)	XP_016860308.1:p.Val15389Ile
XM_017004820.1:c.41563G>A (TTN)	XP_016860309.1:p.Val13855Ile
XM_017004821.1:c.41560G>A (TTN)	XP_016860310.1:p.Val13854Ile
XM_017004822.1:c.38602G>A (TTN)	XP_016860311.1:p.Val12868Ile
XM_017004823.1:c.20218G>A (TTN)	XP_016860312.1:p.Val6740Ile
XM_024453094.1:c.41713G>A (TTN)	XP_024308862.1:p.Val13905Ile
XM_024453095.1:c.41710G>A (TTN)	XP_024308863.1:p.Val13904Ile
XM_024453096.1:c.41143G>A (TTN)	XP_024308864.1:p.Val13715Ile
XM_024453097.1:c.38485G>A (TTN)	XP_024308865.1:p.Val12829Ile
XM_024453098.1:c.38404G>A (TTN)	XP_024308866.1:p.Val12802Ile
XM_024453099.1:c.20167G>A (TTN)	XP_024308867.1:p.Val6723Ile
XM_024453100.1:c.10021G>A (TTN)	XP_024308868.1:p.Val3341Ile