Canonical Allele Identifier: CA349398229

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178527053-A-G
• MyVariant Identifiers: chr2:g.179391780A>G (hg19) ; chr2:g.178527053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527053A>G , CM000664.2:g.178527053A>G	GRCh38
NC_000002.11:g.179391780A>G , CM000664.1:g.179391780A>G	GRCh37
NC_000002.10:g.179100026A>G	NCBI36
NG_011618.3:g.308750T>C , LRG_391:g.308750T>C
NG_051363.1:g.9227A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100231T>C (TTN)	ENSP00000343764.6:p.Ser33411Pro
ENST00000342175.11:c.81316T>C (TTN)	ENSP00000340554.6:p.Ser27106Pro
ENST00000359218.10:c.81115T>C (TTN)	ENSP00000352154.5:p.Ser27039Pro
ENST00000342175.10:c.81316T>C (TTN)	ENSP00000340554.6:p.Ser27106Pro
ENST00000342992.10:c.100231T>C (TTN)	ENSP00000343764.6:p.Ser33411Pro
ENST00000359218.9:c.81115T>C (TTN)	ENSP00000352154.5:p.Ser27039Pro
ENST00000460472.6:c.80740T>C (TTN)	ENSP00000434586.1:p.Ser26914Pro
ENST00000589042.5:c.107935T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser35979Pro
ENST00000591111.5:c.103012T>C (TTN)	ENSP00000465570.1:p.Ser34338Pro
ENST00000615779.4:c.103012T>C (TTN)	ENSP00000483597.1:p.Ser34338Pro
NM_001256850.1:c.103012T>C (TTN)	NP_001243779.1:p.Ser34338Pro
NM_001267550.2:c.107935T>C (TTN) MANE Select	NP_001254479.2:p.Ser35979Pro
NM_003319.4:c.80740T>C (TTN)	NP_003310.4:p.Ser26914Pro
NM_133378.4:c.100231T>C (TTN)	NP_596869.4:p.Ser33411Pro
NM_133432.3:c.81115T>C (TTN)	NP_597676.3:p.Ser27039Pro
NM_133437.4:c.81316T>C (TTN)	NP_597681.4:p.Ser27106Pro
NR_038271.1:n.446+3417A>G (TTN-AS1)
NR_038272.1:n.219+3417A>G (TTN-AS1)
XM_011511729.1:c.107032T>C (TTN)	XP_011510031.1:p.Ser35678Pro
XM_011511730.1:c.80926T>C (TTN)	XP_011510032.1:p.Ser26976Pro
XM_011511731.1:c.80785T>C (TTN)	XP_011510033.1:p.Ser26929Pro
XM_017004819.1:c.106828T>C (TTN)	XP_016860308.1:p.Ser35610Pro
XM_017004820.1:c.102226T>C (TTN)	XP_016860309.1:p.Ser34076Pro
XM_017004821.1:c.102223T>C (TTN)	XP_016860310.1:p.Ser34075Pro
XM_017004822.1:c.99265T>C (TTN)	XP_016860311.1:p.Ser33089Pro
XM_017004823.1:c.80881T>C (TTN)	XP_016860312.1:p.Ser26961Pro
XM_024453094.1:c.102376T>C (TTN)	XP_024308862.1:p.Ser34126Pro
XM_024453095.1:c.102373T>C (TTN)	XP_024308863.1:p.Ser34125Pro
XM_024453096.1:c.101806T>C (TTN)	XP_024308864.1:p.Ser33936Pro
XM_024453097.1:c.99148T>C (TTN)	XP_024308865.1:p.Ser33050Pro
XM_024453098.1:c.99067T>C (TTN)	XP_024308866.1:p.Ser33023Pro
XM_024453099.1:c.80830T>C (TTN)	XP_024308867.1:p.Ser26944Pro
XM_024453100.1:c.70684T>C (TTN)	XP_024308868.1:p.Ser23562Pro