Canonical Allele Identifier: CA349601392

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178567402-T-G
• MyVariant Identifiers: chr2:g.179432129T>G (hg19) ; chr2:g.178567402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567402T>G , CM000664.2:g.178567402T>G	GRCh38
NC_000002.11:g.179432129T>G , CM000664.1:g.179432129T>G	GRCh37
NC_000002.10:g.179140375T>G	NCBI36
NG_011618.3:g.268401A>C , LRG_391:g.268401A>C
NG_051363.1:g.49576T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71026A>C (TTN)	ENSP00000343764.6:p.Asn23676His
ENST00000342175.11:c.52111A>C (TTN)	ENSP00000340554.6:p.Asn17371His
ENST00000359218.10:c.51910A>C (TTN)	ENSP00000352154.5:p.Asn17304His
ENST00000342175.10:c.52111A>C (TTN)	ENSP00000340554.6:p.Asn17371His
ENST00000342992.10:c.71026A>C (TTN)	ENSP00000343764.6:p.Asn23676His
ENST00000359218.9:c.51910A>C (TTN)	ENSP00000352154.5:p.Asn17304His
ENST00000460472.6:c.51535A>C (TTN)	ENSP00000434586.1:p.Asn17179His
ENST00000589042.5:c.78730A>C (TTN) MANE Select	ENSP00000467141.1:p.Asn26244His
ENST00000591111.5:c.73807A>C (TTN)	ENSP00000465570.1:p.Asn24603His
ENST00000615779.4:c.73807A>C (TTN)	ENSP00000483597.1:p.Asn24603His
NM_001256850.1:c.73807A>C (TTN)	NP_001243779.1:p.Asn24603His
NM_001267550.2:c.78730A>C (TTN) MANE Select	NP_001254479.2:p.Asn26244His
NM_003319.4:c.51535A>C (TTN)	NP_003310.4:p.Asn17179His
NM_133378.4:c.71026A>C (TTN)	NP_596869.4:p.Asn23676His
NM_133432.3:c.51910A>C (TTN)	NP_597676.3:p.Asn17304His
NM_133437.4:c.52111A>C (TTN)	NP_597681.4:p.Asn17371His
NR_038271.1:n.447-3898T>G (TTN-AS1)
NR_038272.1:n.2044-15170T>G (TTN-AS1)
XM_011511729.1:c.77827A>C (TTN)	XP_011510031.1:p.Asn25943His
XM_011511730.1:c.51721A>C (TTN)	XP_011510032.1:p.Asn17241His
XM_011511731.1:c.51580A>C (TTN)	XP_011510033.1:p.Asn17194His
XM_017004819.1:c.77623A>C (TTN)	XP_016860308.1:p.Asn25875His
XM_017004820.1:c.73021A>C (TTN)	XP_016860309.1:p.Asn24341His
XM_017004821.1:c.73018A>C (TTN)	XP_016860310.1:p.Asn24340His
XM_017004822.1:c.70060A>C (TTN)	XP_016860311.1:p.Asn23354His
XM_017004823.1:c.51676A>C (TTN)	XP_016860312.1:p.Asn17226His
XM_024453094.1:c.73171A>C (TTN)	XP_024308862.1:p.Asn24391His
XM_024453095.1:c.73168A>C (TTN)	XP_024308863.1:p.Asn24390His
XM_024453096.1:c.72601A>C (TTN)	XP_024308864.1:p.Asn24201His
XM_024453097.1:c.69943A>C (TTN)	XP_024308865.1:p.Asn23315His
XM_024453098.1:c.69862A>C (TTN)	XP_024308866.1:p.Asn23288His
XM_024453099.1:c.51625A>C (TTN)	XP_024308867.1:p.Asn17209His
XM_024453100.1:c.41479A>C (TTN)	XP_024308868.1:p.Asn13827His