Canonical Allele Identifier: CA349450863

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1216183725
• gnomAD v2: 2-179408612-C-T
• gnomAD v4: 2-178543885-C-T
• MyVariant Identifiers: chr2:g.179408612C>T (hg19) ; chr2:g.178543885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543885C>T , CM000664.2:g.178543885C>T	GRCh38
NC_000002.11:g.179408612C>T , CM000664.1:g.179408612C>T	GRCh37
NC_000002.10:g.179116858C>T	NCBI36
NG_011618.3:g.291918G>A , LRG_391:g.291918G>A
NG_051363.1:g.26059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88555G>A (TTN)	ENSP00000343764.6:p.Ala29519Thr
ENST00000342175.11:c.69640G>A (TTN)	ENSP00000340554.6:p.Ala23214Thr
ENST00000359218.10:c.69439G>A (TTN)	ENSP00000352154.5:p.Ala23147Thr
ENST00000342175.10:c.69640G>A (TTN)	ENSP00000340554.6:p.Ala23214Thr
ENST00000342992.10:c.88555G>A (TTN)	ENSP00000343764.6:p.Ala29519Thr
ENST00000359218.9:c.69439G>A (TTN)	ENSP00000352154.5:p.Ala23147Thr
ENST00000460472.6:c.69064G>A (TTN)	ENSP00000434586.1:p.Ala23022Thr
ENST00000589042.5:c.96259G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala32087Thr
ENST00000591111.5:c.91336G>A (TTN)	ENSP00000465570.1:p.Ala30446Thr
ENST00000615779.4:c.91336G>A (TTN)	ENSP00000483597.1:p.Ala30446Thr
NM_001256850.1:c.91336G>A (TTN)	NP_001243779.1:p.Ala30446Thr
NM_001267550.2:c.96259G>A (TTN) MANE Select	NP_001254479.2:p.Ala32087Thr
NM_003319.4:c.69064G>A (TTN)	NP_003310.4:p.Ala23022Thr
NM_133378.4:c.88555G>A (TTN)	NP_596869.4:p.Ala29519Thr
NM_133432.3:c.69439G>A (TTN)	NP_597676.3:p.Ala23147Thr
NM_133437.4:c.69640G>A (TTN)	NP_597681.4:p.Ala23214Thr
NR_038271.1:n.446+20249C>T (TTN-AS1)
NR_038272.1:n.2043+1524C>T (TTN-AS1)
XM_011511729.1:c.95356G>A (TTN)	XP_011510031.1:p.Ala31786Thr
XM_011511730.1:c.69250G>A (TTN)	XP_011510032.1:p.Ala23084Thr
XM_011511731.1:c.69109G>A (TTN)	XP_011510033.1:p.Ala23037Thr
XM_017004819.1:c.95152G>A (TTN)	XP_016860308.1:p.Ala31718Thr
XM_017004820.1:c.90550G>A (TTN)	XP_016860309.1:p.Ala30184Thr
XM_017004821.1:c.90547G>A (TTN)	XP_016860310.1:p.Ala30183Thr
XM_017004822.1:c.87589G>A (TTN)	XP_016860311.1:p.Ala29197Thr
XM_017004823.1:c.69205G>A (TTN)	XP_016860312.1:p.Ala23069Thr
XM_024453094.1:c.90700G>A (TTN)	XP_024308862.1:p.Ala30234Thr
XM_024453095.1:c.90697G>A (TTN)	XP_024308863.1:p.Ala30233Thr
XM_024453096.1:c.90130G>A (TTN)	XP_024308864.1:p.Ala30044Thr
XM_024453097.1:c.87472G>A (TTN)	XP_024308865.1:p.Ala29158Thr
XM_024453098.1:c.87391G>A (TTN)	XP_024308866.1:p.Ala29131Thr
XM_024453099.1:c.69154G>A (TTN)	XP_024308867.1:p.Ala23052Thr
XM_024453100.1:c.59008G>A (TTN)	XP_024308868.1:p.Ala19670Thr