Canonical Allele Identifier: CA349407310

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395366G>T (hg19) ; chr2:g.178530639G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530639G>T , CM000664.2:g.178530639G>T	GRCh38
NC_000002.11:g.179395366G>T , CM000664.1:g.179395366G>T	GRCh37
NC_000002.10:g.179103612G>T	NCBI36
NG_011618.3:g.305164C>A , LRG_391:g.305164C>A
NG_051363.1:g.12813G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98272C>A (TTN)	ENSP00000343764.6:p.Leu32758Met
ENST00000342175.11:c.79357C>A (TTN)	ENSP00000340554.6:p.Leu26453Met
ENST00000359218.10:c.79156C>A (TTN)	ENSP00000352154.5:p.Leu26386Met
ENST00000342175.10:c.79357C>A (TTN)	ENSP00000340554.6:p.Leu26453Met
ENST00000342992.10:c.98272C>A (TTN)	ENSP00000343764.6:p.Leu32758Met
ENST00000359218.9:c.79156C>A (TTN)	ENSP00000352154.5:p.Leu26386Met
ENST00000460472.6:c.78781C>A (TTN)	ENSP00000434586.1:p.Leu26261Met
ENST00000589042.5:c.105976C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35326Met
ENST00000591111.5:c.101053C>A (TTN)	ENSP00000465570.1:p.Leu33685Met
ENST00000615779.4:c.101053C>A (TTN)	ENSP00000483597.1:p.Leu33685Met
NM_001256850.1:c.101053C>A (TTN)	NP_001243779.1:p.Leu33685Met
NM_001267550.2:c.105976C>A (TTN) MANE Select	NP_001254479.2:p.Leu35326Met
NM_003319.4:c.78781C>A (TTN)	NP_003310.4:p.Leu26261Met
NM_133378.4:c.98272C>A (TTN)	NP_596869.4:p.Leu32758Met
NM_133432.3:c.79156C>A (TTN)	NP_597676.3:p.Leu26386Met
NM_133437.4:c.79357C>A (TTN)	NP_597681.4:p.Leu26453Met
NR_038271.1:n.446+7003G>T (TTN-AS1)
NR_038272.1:n.220-5093G>T (TTN-AS1)
XM_011511729.1:c.105073C>A (TTN)	XP_011510031.1:p.Leu35025Met
XM_011511730.1:c.78967C>A (TTN)	XP_011510032.1:p.Leu26323Met
XM_011511731.1:c.78826C>A (TTN)	XP_011510033.1:p.Leu26276Met
XM_017004819.1:c.104869C>A (TTN)	XP_016860308.1:p.Leu34957Met
XM_017004820.1:c.100267C>A (TTN)	XP_016860309.1:p.Leu33423Met
XM_017004821.1:c.100264C>A (TTN)	XP_016860310.1:p.Leu33422Met
XM_017004822.1:c.97306C>A (TTN)	XP_016860311.1:p.Leu32436Met
XM_017004823.1:c.78922C>A (TTN)	XP_016860312.1:p.Leu26308Met
XM_024453094.1:c.100417C>A (TTN)	XP_024308862.1:p.Leu33473Met
XM_024453095.1:c.100414C>A (TTN)	XP_024308863.1:p.Leu33472Met
XM_024453096.1:c.99847C>A (TTN)	XP_024308864.1:p.Leu33283Met
XM_024453097.1:c.97189C>A (TTN)	XP_024308865.1:p.Leu32397Met
XM_024453098.1:c.97108C>A (TTN)	XP_024308866.1:p.Leu32370Met
XM_024453099.1:c.78871C>A (TTN)	XP_024308867.1:p.Leu26291Met
XM_024453100.1:c.68725C>A (TTN)	XP_024308868.1:p.Leu22909Met