Canonical Allele Identifier: CA349405798

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1288351302
• gnomAD v2: 2-179394975-T-A
• gnomAD v4: 2-178530248-T-A
• MyVariant Identifiers: chr2:g.179394975T>A (hg19) ; chr2:g.178530248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530248T>A , CM000664.2:g.178530248T>A	GRCh38
NC_000002.11:g.179394975T>A , CM000664.1:g.179394975T>A	GRCh37
NC_000002.10:g.179103221T>A	NCBI36
NG_011618.3:g.305555A>T , LRG_391:g.305555A>T
NG_051363.1:g.12422T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98663A>T (TTN)	ENSP00000343764.6:p.Asp32888Val
ENST00000342175.11:c.79748A>T (TTN)	ENSP00000340554.6:p.Asp26583Val
ENST00000359218.10:c.79547A>T (TTN)	ENSP00000352154.5:p.Asp26516Val
ENST00000342175.10:c.79748A>T (TTN)	ENSP00000340554.6:p.Asp26583Val
ENST00000342992.10:c.98663A>T (TTN)	ENSP00000343764.6:p.Asp32888Val
ENST00000359218.9:c.79547A>T (TTN)	ENSP00000352154.5:p.Asp26516Val
ENST00000460472.6:c.79172A>T (TTN)	ENSP00000434586.1:p.Asp26391Val
ENST00000589042.5:c.106367A>T (TTN) MANE Select	ENSP00000467141.1:p.Asp35456Val
ENST00000591111.5:c.101444A>T (TTN)	ENSP00000465570.1:p.Asp33815Val
ENST00000615779.4:c.101444A>T (TTN)	ENSP00000483597.1:p.Asp33815Val
NM_001256850.1:c.101444A>T (TTN)	NP_001243779.1:p.Asp33815Val
NM_001267550.2:c.106367A>T (TTN) MANE Select	NP_001254479.2:p.Asp35456Val
NM_003319.4:c.79172A>T (TTN)	NP_003310.4:p.Asp26391Val
NM_133378.4:c.98663A>T (TTN)	NP_596869.4:p.Asp32888Val
NM_133432.3:c.79547A>T (TTN)	NP_597676.3:p.Asp26516Val
NM_133437.4:c.79748A>T (TTN)	NP_597681.4:p.Asp26583Val
NR_038271.1:n.446+6612T>A (TTN-AS1)
NR_038272.1:n.220-5484T>A (TTN-AS1)
XM_011511729.1:c.105464A>T (TTN)	XP_011510031.1:p.Asp35155Val
XM_011511730.1:c.79358A>T (TTN)	XP_011510032.1:p.Asp26453Val
XM_011511731.1:c.79217A>T (TTN)	XP_011510033.1:p.Asp26406Val
XM_017004819.1:c.105260A>T (TTN)	XP_016860308.1:p.Asp35087Val
XM_017004820.1:c.100658A>T (TTN)	XP_016860309.1:p.Asp33553Val
XM_017004821.1:c.100655A>T (TTN)	XP_016860310.1:p.Asp33552Val
XM_017004822.1:c.97697A>T (TTN)	XP_016860311.1:p.Asp32566Val
XM_017004823.1:c.79313A>T (TTN)	XP_016860312.1:p.Asp26438Val
XM_024453094.1:c.100808A>T (TTN)	XP_024308862.1:p.Asp33603Val
XM_024453095.1:c.100805A>T (TTN)	XP_024308863.1:p.Asp33602Val
XM_024453096.1:c.100238A>T (TTN)	XP_024308864.1:p.Asp33413Val
XM_024453097.1:c.97580A>T (TTN)	XP_024308865.1:p.Asp32527Val
XM_024453098.1:c.97499A>T (TTN)	XP_024308866.1:p.Asp32500Val
XM_024453099.1:c.79262A>T (TTN)	XP_024308867.1:p.Asp26421Val
XM_024453100.1:c.69116A>T (TTN)	XP_024308868.1:p.Asp23039Val