Canonical Allele Identifier: CA349407046

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395249C>A (hg19) ; chr2:g.178530522C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530522C>A , CM000664.2:g.178530522C>A	GRCh38
NC_000002.11:g.179395249C>A , CM000664.1:g.179395249C>A	GRCh37
NC_000002.10:g.179103495C>A	NCBI36
NG_011618.3:g.305281G>T , LRG_391:g.305281G>T
NG_051363.1:g.12696C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98389G>T (TTN)	ENSP00000343764.6:p.Gly32797Cys
ENST00000342175.11:c.79474G>T (TTN)	ENSP00000340554.6:p.Gly26492Cys
ENST00000359218.10:c.79273G>T (TTN)	ENSP00000352154.5:p.Gly26425Cys
ENST00000342175.10:c.79474G>T (TTN)	ENSP00000340554.6:p.Gly26492Cys
ENST00000342992.10:c.98389G>T (TTN)	ENSP00000343764.6:p.Gly32797Cys
ENST00000359218.9:c.79273G>T (TTN)	ENSP00000352154.5:p.Gly26425Cys
ENST00000460472.6:c.78898G>T (TTN)	ENSP00000434586.1:p.Gly26300Cys
ENST00000589042.5:c.106093G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly35365Cys
ENST00000591111.5:c.101170G>T (TTN)	ENSP00000465570.1:p.Gly33724Cys
ENST00000615779.4:c.101170G>T (TTN)	ENSP00000483597.1:p.Gly33724Cys
NM_001256850.1:c.101170G>T (TTN)	NP_001243779.1:p.Gly33724Cys
NM_001267550.2:c.106093G>T (TTN) MANE Select	NP_001254479.2:p.Gly35365Cys
NM_003319.4:c.78898G>T (TTN)	NP_003310.4:p.Gly26300Cys
NM_133378.4:c.98389G>T (TTN)	NP_596869.4:p.Gly32797Cys
NM_133432.3:c.79273G>T (TTN)	NP_597676.3:p.Gly26425Cys
NM_133437.4:c.79474G>T (TTN)	NP_597681.4:p.Gly26492Cys
NR_038271.1:n.446+6886C>A (TTN-AS1)
NR_038272.1:n.220-5210C>A (TTN-AS1)
XM_011511729.1:c.105190G>T (TTN)	XP_011510031.1:p.Gly35064Cys
XM_011511730.1:c.79084G>T (TTN)	XP_011510032.1:p.Gly26362Cys
XM_011511731.1:c.78943G>T (TTN)	XP_011510033.1:p.Gly26315Cys
XM_017004819.1:c.104986G>T (TTN)	XP_016860308.1:p.Gly34996Cys
XM_017004820.1:c.100384G>T (TTN)	XP_016860309.1:p.Gly33462Cys
XM_017004821.1:c.100381G>T (TTN)	XP_016860310.1:p.Gly33461Cys
XM_017004822.1:c.97423G>T (TTN)	XP_016860311.1:p.Gly32475Cys
XM_017004823.1:c.79039G>T (TTN)	XP_016860312.1:p.Gly26347Cys
XM_024453094.1:c.100534G>T (TTN)	XP_024308862.1:p.Gly33512Cys
XM_024453095.1:c.100531G>T (TTN)	XP_024308863.1:p.Gly33511Cys
XM_024453096.1:c.99964G>T (TTN)	XP_024308864.1:p.Gly33322Cys
XM_024453097.1:c.97306G>T (TTN)	XP_024308865.1:p.Gly32436Cys
XM_024453098.1:c.97225G>T (TTN)	XP_024308866.1:p.Gly32409Cys
XM_024453099.1:c.78988G>T (TTN)	XP_024308867.1:p.Gly26330Cys
XM_024453100.1:c.68842G>T (TTN)	XP_024308868.1:p.Gly22948Cys