Canonical Allele Identifier: CA349503473

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1699529751
• gnomAD v3: 2-178551755-C-A
• gnomAD v4: 2-178551755-C-A
• MyVariant Identifiers: chr2:g.179416482C>A (hg19) ; chr2:g.178551755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551755C>A , CM000664.2:g.178551755C>A	GRCh38
NC_000002.11:g.179416482C>A , CM000664.1:g.179416482C>A	GRCh37
NC_000002.10:g.179124728C>A	NCBI36
NG_011618.3:g.284048G>T , LRG_391:g.284048G>T
NG_051363.1:g.33929C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83441G>T (TTN)	ENSP00000343764.6:p.Arg27814Ile
ENST00000342175.11:c.64526G>T (TTN)	ENSP00000340554.6:p.Arg21509Ile
ENST00000359218.10:c.64325G>T (TTN)	ENSP00000352154.5:p.Arg21442Ile
ENST00000342175.10:c.64526G>T (TTN)	ENSP00000340554.6:p.Arg21509Ile
ENST00000342992.10:c.83441G>T (TTN)	ENSP00000343764.6:p.Arg27814Ile
ENST00000359218.9:c.64325G>T (TTN)	ENSP00000352154.5:p.Arg21442Ile
ENST00000460472.6:c.63950G>T (TTN)	ENSP00000434586.1:p.Arg21317Ile
ENST00000589042.5:c.91145G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg30382Ile
ENST00000591111.5:c.86222G>T (TTN)	ENSP00000465570.1:p.Arg28741Ile
ENST00000615779.4:c.86222G>T (TTN)	ENSP00000483597.1:p.Arg28741Ile
NM_001256850.1:c.86222G>T (TTN)	NP_001243779.1:p.Arg28741Ile
NM_001267550.2:c.91145G>T (TTN) MANE Select	NP_001254479.2:p.Arg30382Ile
NM_003319.4:c.63950G>T (TTN)	NP_003310.4:p.Arg21317Ile
NM_133378.4:c.83441G>T (TTN)	NP_596869.4:p.Arg27814Ile
NM_133432.3:c.64325G>T (TTN)	NP_597676.3:p.Arg21442Ile
NM_133437.4:c.64526G>T (TTN)	NP_597681.4:p.Arg21509Ile
NR_038271.1:n.447-19545C>A (TTN-AS1)
NR_038272.1:n.2043+9394C>A (TTN-AS1)
XM_011511729.1:c.90242G>T (TTN)	XP_011510031.1:p.Arg30081Ile
XM_011511730.1:c.64136G>T (TTN)	XP_011510032.1:p.Arg21379Ile
XM_011511731.1:c.63995G>T (TTN)	XP_011510033.1:p.Arg21332Ile
XM_017004819.1:c.90038G>T (TTN)	XP_016860308.1:p.Arg30013Ile
XM_017004820.1:c.85436G>T (TTN)	XP_016860309.1:p.Arg28479Ile
XM_017004821.1:c.85433G>T (TTN)	XP_016860310.1:p.Arg28478Ile
XM_017004822.1:c.82475G>T (TTN)	XP_016860311.1:p.Arg27492Ile
XM_017004823.1:c.64091G>T (TTN)	XP_016860312.1:p.Arg21364Ile
XM_024453094.1:c.85586G>T (TTN)	XP_024308862.1:p.Arg28529Ile
XM_024453095.1:c.85583G>T (TTN)	XP_024308863.1:p.Arg28528Ile
XM_024453096.1:c.85016G>T (TTN)	XP_024308864.1:p.Arg28339Ile
XM_024453097.1:c.82358G>T (TTN)	XP_024308865.1:p.Arg27453Ile
XM_024453098.1:c.82277G>T (TTN)	XP_024308866.1:p.Arg27426Ile
XM_024453099.1:c.64040G>T (TTN)	XP_024308867.1:p.Arg21347Ile
XM_024453100.1:c.53894G>T (TTN)	XP_024308868.1:p.Arg17965Ile