Canonical Allele Identifier: CA349600919

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178567294-T-G
• MyVariant Identifiers: chr2:g.179432021T>G (hg19) ; chr2:g.178567294T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567294T>G , CM000664.2:g.178567294T>G	GRCh38
NC_000002.11:g.179432021T>G , CM000664.1:g.179432021T>G	GRCh37
NC_000002.10:g.179140267T>G	NCBI36
NG_011618.3:g.268509A>C , LRG_391:g.268509A>C
NG_051363.1:g.49468T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71134A>C (TTN)	ENSP00000343764.6:p.Asn23712His
ENST00000342175.11:c.52219A>C (TTN)	ENSP00000340554.6:p.Asn17407His
ENST00000359218.10:c.52018A>C (TTN)	ENSP00000352154.5:p.Asn17340His
ENST00000342175.10:c.52219A>C (TTN)	ENSP00000340554.6:p.Asn17407His
ENST00000342992.10:c.71134A>C (TTN)	ENSP00000343764.6:p.Asn23712His
ENST00000359218.9:c.52018A>C (TTN)	ENSP00000352154.5:p.Asn17340His
ENST00000460472.6:c.51643A>C (TTN)	ENSP00000434586.1:p.Asn17215His
ENST00000589042.5:c.78838A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn26280His
ENST00000591111.5:c.73915A>C (TTN)	ENSP00000465570.1:p.Asn24639His
ENST00000615779.4:c.73915A>C (TTN)	ENSP00000483597.1:p.Asn24639His
NM_001256850.1:c.73915A>C (TTN)	NP_001243779.1:p.Asn24639His
NM_001267550.2:c.78838A>C (TTN) MANE Select	NP_001254479.2:p.Asn26280His
NM_003319.4:c.51643A>C (TTN)	NP_003310.4:p.Asn17215His
NM_133378.4:c.71134A>C (TTN)	NP_596869.4:p.Asn23712His
NM_133432.3:c.52018A>C (TTN)	NP_597676.3:p.Asn17340His
NM_133437.4:c.52219A>C (TTN)	NP_597681.4:p.Asn17407His
NR_038271.1:n.447-4006T>G (TTN-AS1)
NR_038272.1:n.2044-15278T>G (TTN-AS1)
XM_011511729.1:c.77935A>C (TTN)	XP_011510031.1:p.Asn25979His
XM_011511730.1:c.51829A>C (TTN)	XP_011510032.1:p.Asn17277His
XM_011511731.1:c.51688A>C (TTN)	XP_011510033.1:p.Asn17230His
XM_017004819.1:c.77731A>C (TTN)	XP_016860308.1:p.Asn25911His
XM_017004820.1:c.73129A>C (TTN)	XP_016860309.1:p.Asn24377His
XM_017004821.1:c.73126A>C (TTN)	XP_016860310.1:p.Asn24376His
XM_017004822.1:c.70168A>C (TTN)	XP_016860311.1:p.Asn23390His
XM_017004823.1:c.51784A>C (TTN)	XP_016860312.1:p.Asn17262His
XM_024453094.1:c.73279A>C (TTN)	XP_024308862.1:p.Asn24427His
XM_024453095.1:c.73276A>C (TTN)	XP_024308863.1:p.Asn24426His
XM_024453096.1:c.72709A>C (TTN)	XP_024308864.1:p.Asn24237His
XM_024453097.1:c.70051A>C (TTN)	XP_024308865.1:p.Asn23351His
XM_024453098.1:c.69970A>C (TTN)	XP_024308866.1:p.Asn23324His
XM_024453099.1:c.51733A>C (TTN)	XP_024308867.1:p.Asn17245His
XM_024453100.1:c.41587A>C (TTN)	XP_024308868.1:p.Asn13863His