Canonical Allele Identifier: CA1985162

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 516957
• ClinVar RCV Id: RCV000616501 ; RCV004017699
• dbSNP Id: rs752758517
• ExAC: 2:179395215 C / G
• gnomAD v2: 2-179395215-C-G
• gnomAD v3: 2-178530488-C-G
• gnomAD v4: 2-178530488-C-G
• MyVariant Identifiers: chr2:g.179395215C>G (hg19) ; chr2:g.178530488C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530488C>G , CM000664.2:g.178530488C>G	GRCh38
NC_000002.11:g.179395215C>G , CM000664.1:g.179395215C>G	GRCh37
NC_000002.10:g.179103461C>G	NCBI36
NG_011618.3:g.305315G>C , LRG_391:g.305315G>C
NG_051363.1:g.12662C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98423G>C (TTN)	ENSP00000343764.6:p.Gly32808Ala
ENST00000342175.11:c.79508G>C (TTN)	ENSP00000340554.6:p.Gly26503Ala
ENST00000359218.10:c.79307G>C (TTN)	ENSP00000352154.5:p.Gly26436Ala
ENST00000342175.10:c.79508G>C (TTN)	ENSP00000340554.6:p.Gly26503Ala
ENST00000342992.10:c.98423G>C (TTN)	ENSP00000343764.6:p.Gly32808Ala
ENST00000359218.9:c.79307G>C (TTN)	ENSP00000352154.5:p.Gly26436Ala
ENST00000460472.6:c.78932G>C (TTN)	ENSP00000434586.1:p.Gly26311Ala
ENST00000589042.5:c.106127G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35376Ala
ENST00000591111.5:c.101204G>C (TTN)	ENSP00000465570.1:p.Gly33735Ala
ENST00000615779.4:c.101204G>C (TTN)	ENSP00000483597.1:p.Gly33735Ala
NM_001256850.1:c.101204G>C (TTN)	NP_001243779.1:p.Gly33735Ala
NM_001267550.2:c.106127G>C (TTN) MANE Select	NP_001254479.2:p.Gly35376Ala
NM_003319.4:c.78932G>C (TTN)	NP_003310.4:p.Gly26311Ala
NM_133378.4:c.98423G>C (TTN)	NP_596869.4:p.Gly32808Ala
NM_133432.3:c.79307G>C (TTN)	NP_597676.3:p.Gly26436Ala
NM_133437.4:c.79508G>C (TTN)	NP_597681.4:p.Gly26503Ala
NR_038271.1:n.446+6852C>G (TTN-AS1)
NR_038272.1:n.220-5244C>G (TTN-AS1)
XM_011511729.1:c.105224G>C (TTN)	XP_011510031.1:p.Gly35075Ala
XM_011511730.1:c.79118G>C (TTN)	XP_011510032.1:p.Gly26373Ala
XM_011511731.1:c.78977G>C (TTN)	XP_011510033.1:p.Gly26326Ala
XM_017004819.1:c.105020G>C (TTN)	XP_016860308.1:p.Gly35007Ala
XM_017004820.1:c.100418G>C (TTN)	XP_016860309.1:p.Gly33473Ala
XM_017004821.1:c.100415G>C (TTN)	XP_016860310.1:p.Gly33472Ala
XM_017004822.1:c.97457G>C (TTN)	XP_016860311.1:p.Gly32486Ala
XM_017004823.1:c.79073G>C (TTN)	XP_016860312.1:p.Gly26358Ala
XM_024453094.1:c.100568G>C (TTN)	XP_024308862.1:p.Gly33523Ala
XM_024453095.1:c.100565G>C (TTN)	XP_024308863.1:p.Gly33522Ala
XM_024453096.1:c.99998G>C (TTN)	XP_024308864.1:p.Gly33333Ala
XM_024453097.1:c.97340G>C (TTN)	XP_024308865.1:p.Gly32447Ala
XM_024453098.1:c.97259G>C (TTN)	XP_024308866.1:p.Gly32420Ala
XM_024453099.1:c.79022G>C (TTN)	XP_024308867.1:p.Gly26341Ala
XM_024453100.1:c.68876G>C (TTN)	XP_024308868.1:p.Gly22959Ala