Canonical Allele Identifier: CA349407035

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395243T>A (hg19) ; chr2:g.178530516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530516T>A , CM000664.2:g.178530516T>A	GRCh38
NC_000002.11:g.179395243T>A , CM000664.1:g.179395243T>A	GRCh37
NC_000002.10:g.179103489T>A	NCBI36
NG_011618.3:g.305287A>T , LRG_391:g.305287A>T
NG_051363.1:g.12690T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98395A>T (TTN)	ENSP00000343764.6:p.Thr32799Ser
ENST00000342175.11:c.79480A>T (TTN)	ENSP00000340554.6:p.Thr26494Ser
ENST00000359218.10:c.79279A>T (TTN)	ENSP00000352154.5:p.Thr26427Ser
ENST00000342175.10:c.79480A>T (TTN)	ENSP00000340554.6:p.Thr26494Ser
ENST00000342992.10:c.98395A>T (TTN)	ENSP00000343764.6:p.Thr32799Ser
ENST00000359218.9:c.79279A>T (TTN)	ENSP00000352154.5:p.Thr26427Ser
ENST00000460472.6:c.78904A>T (TTN)	ENSP00000434586.1:p.Thr26302Ser
ENST00000589042.5:c.106099A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35367Ser
ENST00000591111.5:c.101176A>T (TTN)	ENSP00000465570.1:p.Thr33726Ser
ENST00000615779.4:c.101176A>T (TTN)	ENSP00000483597.1:p.Thr33726Ser
NM_001256850.1:c.101176A>T (TTN)	NP_001243779.1:p.Thr33726Ser
NM_001267550.2:c.106099A>T (TTN) MANE Select	NP_001254479.2:p.Thr35367Ser
NM_003319.4:c.78904A>T (TTN)	NP_003310.4:p.Thr26302Ser
NM_133378.4:c.98395A>T (TTN)	NP_596869.4:p.Thr32799Ser
NM_133432.3:c.79279A>T (TTN)	NP_597676.3:p.Thr26427Ser
NM_133437.4:c.79480A>T (TTN)	NP_597681.4:p.Thr26494Ser
NR_038271.1:n.446+6880T>A (TTN-AS1)
NR_038272.1:n.220-5216T>A (TTN-AS1)
XM_011511729.1:c.105196A>T (TTN)	XP_011510031.1:p.Thr35066Ser
XM_011511730.1:c.79090A>T (TTN)	XP_011510032.1:p.Thr26364Ser
XM_011511731.1:c.78949A>T (TTN)	XP_011510033.1:p.Thr26317Ser
XM_017004819.1:c.104992A>T (TTN)	XP_016860308.1:p.Thr34998Ser
XM_017004820.1:c.100390A>T (TTN)	XP_016860309.1:p.Thr33464Ser
XM_017004821.1:c.100387A>T (TTN)	XP_016860310.1:p.Thr33463Ser
XM_017004822.1:c.97429A>T (TTN)	XP_016860311.1:p.Thr32477Ser
XM_017004823.1:c.79045A>T (TTN)	XP_016860312.1:p.Thr26349Ser
XM_024453094.1:c.100540A>T (TTN)	XP_024308862.1:p.Thr33514Ser
XM_024453095.1:c.100537A>T (TTN)	XP_024308863.1:p.Thr33513Ser
XM_024453096.1:c.99970A>T (TTN)	XP_024308864.1:p.Thr33324Ser
XM_024453097.1:c.97312A>T (TTN)	XP_024308865.1:p.Thr32438Ser
XM_024453098.1:c.97231A>T (TTN)	XP_024308866.1:p.Thr32411Ser
XM_024453099.1:c.78994A>T (TTN)	XP_024308867.1:p.Thr26332Ser
XM_024453100.1:c.68848A>T (TTN)	XP_024308868.1:p.Thr22950Ser