Canonical Allele Identifier: CA349405473

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394810C>A (hg19) ; chr2:g.178530083C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530083C>A , CM000664.2:g.178530083C>A	GRCh38
NC_000002.11:g.179394810C>A , CM000664.1:g.179394810C>A	GRCh37
NC_000002.10:g.179103056C>A	NCBI36
NG_011618.3:g.305720G>T , LRG_391:g.305720G>T
NG_051363.1:g.12257C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98704G>T (TTN)	ENSP00000343764.6:p.Glu32902Ter
ENST00000342175.11:c.79789G>T (TTN)	ENSP00000340554.6:p.Glu26597Ter
ENST00000359218.10:c.79588G>T (TTN)	ENSP00000352154.5:p.Glu26530Ter
ENST00000342175.10:c.79789G>T (TTN)	ENSP00000340554.6:p.Glu26597Ter
ENST00000342992.10:c.98704G>T (TTN)	ENSP00000343764.6:p.Glu32902Ter
ENST00000359218.9:c.79588G>T (TTN)	ENSP00000352154.5:p.Glu26530Ter
ENST00000460472.6:c.79213G>T (TTN)	ENSP00000434586.1:p.Glu26405Ter
ENST00000589042.5:c.106408G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu35470Ter
ENST00000591111.5:c.101485G>T (TTN)	ENSP00000465570.1:p.Glu33829Ter
ENST00000615779.4:c.101485G>T (TTN)	ENSP00000483597.1:p.Glu33829Ter
NM_001256850.1:c.101485G>T (TTN)	NP_001243779.1:p.Glu33829Ter
NM_001267550.2:c.106408G>T (TTN) MANE Select	NP_001254479.2:p.Glu35470Ter
NM_003319.4:c.79213G>T (TTN)	NP_003310.4:p.Glu26405Ter
NM_133378.4:c.98704G>T (TTN)	NP_596869.4:p.Glu32902Ter
NM_133432.3:c.79588G>T (TTN)	NP_597676.3:p.Glu26530Ter
NM_133437.4:c.79789G>T (TTN)	NP_597681.4:p.Glu26597Ter
NR_038271.1:n.446+6447C>A (TTN-AS1)
NR_038272.1:n.220-5649C>A (TTN-AS1)
XM_011511729.1:c.105505G>T (TTN)	XP_011510031.1:p.Glu35169Ter
XM_011511730.1:c.79399G>T (TTN)	XP_011510032.1:p.Glu26467Ter
XM_011511731.1:c.79258G>T (TTN)	XP_011510033.1:p.Glu26420Ter
XM_017004819.1:c.105301G>T (TTN)	XP_016860308.1:p.Glu35101Ter
XM_017004820.1:c.100699G>T (TTN)	XP_016860309.1:p.Glu33567Ter
XM_017004821.1:c.100696G>T (TTN)	XP_016860310.1:p.Glu33566Ter
XM_017004822.1:c.97738G>T (TTN)	XP_016860311.1:p.Glu32580Ter
XM_017004823.1:c.79354G>T (TTN)	XP_016860312.1:p.Glu26452Ter
XM_024453094.1:c.100849G>T (TTN)	XP_024308862.1:p.Glu33617Ter
XM_024453095.1:c.100846G>T (TTN)	XP_024308863.1:p.Glu33616Ter
XM_024453096.1:c.100279G>T (TTN)	XP_024308864.1:p.Glu33427Ter
XM_024453097.1:c.97621G>T (TTN)	XP_024308865.1:p.Glu32541Ter
XM_024453098.1:c.97540G>T (TTN)	XP_024308866.1:p.Glu32514Ter
XM_024453099.1:c.79303G>T (TTN)	XP_024308867.1:p.Glu26435Ter
XM_024453100.1:c.69157G>T (TTN)	XP_024308868.1:p.Glu23053Ter