Canonical Allele Identifier: CA349496215

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1231209607
• gnomAD v2: 2-179414564-A-G
• gnomAD v4: 2-178549837-A-G
• COSMIC: COSM3379883 ; COSM3379884 ; COSM3379885 ; COSM3379886
• MyVariant Identifiers: chr2:g.179414564A>G (hg19) ; chr2:g.178549837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549837A>G , CM000664.2:g.178549837A>G	GRCh38
NC_000002.11:g.179414564A>G , CM000664.1:g.179414564A>G	GRCh37
NC_000002.10:g.179122810A>G	NCBI36
NG_011618.3:g.285966T>C , LRG_391:g.285966T>C
NG_051363.1:g.32011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84181T>C (TTN)	ENSP00000343764.6:p.Phe28061Leu
ENST00000342175.11:c.65266T>C (TTN)	ENSP00000340554.6:p.Phe21756Leu
ENST00000359218.10:c.65065T>C (TTN)	ENSP00000352154.5:p.Phe21689Leu
ENST00000342175.10:c.65266T>C (TTN)	ENSP00000340554.6:p.Phe21756Leu
ENST00000342992.10:c.84181T>C (TTN)	ENSP00000343764.6:p.Phe28061Leu
ENST00000359218.9:c.65065T>C (TTN)	ENSP00000352154.5:p.Phe21689Leu
ENST00000460472.6:c.64690T>C (TTN)	ENSP00000434586.1:p.Phe21564Leu
ENST00000589042.5:c.91885T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe30629Leu
ENST00000591111.5:c.86962T>C (TTN)	ENSP00000465570.1:p.Phe28988Leu
ENST00000615779.4:c.86962T>C (TTN)	ENSP00000483597.1:p.Phe28988Leu
NM_001256850.1:c.86962T>C (TTN)	NP_001243779.1:p.Phe28988Leu
NM_001267550.2:c.91885T>C (TTN) MANE Select	NP_001254479.2:p.Phe30629Leu
NM_003319.4:c.64690T>C (TTN)	NP_003310.4:p.Phe21564Leu
NM_133378.4:c.84181T>C (TTN)	NP_596869.4:p.Phe28061Leu
NM_133432.3:c.65065T>C (TTN)	NP_597676.3:p.Phe21689Leu
NM_133437.4:c.65266T>C (TTN)	NP_597681.4:p.Phe21756Leu
NR_038271.1:n.447-21463A>G (TTN-AS1)
NR_038272.1:n.2043+7476A>G (TTN-AS1)
XM_011511729.1:c.90982T>C (TTN)	XP_011510031.1:p.Phe30328Leu
XM_011511730.1:c.64876T>C (TTN)	XP_011510032.1:p.Phe21626Leu
XM_011511731.1:c.64735T>C (TTN)	XP_011510033.1:p.Phe21579Leu
XM_017004819.1:c.90778T>C (TTN)	XP_016860308.1:p.Phe30260Leu
XM_017004820.1:c.86176T>C (TTN)	XP_016860309.1:p.Phe28726Leu
XM_017004821.1:c.86173T>C (TTN)	XP_016860310.1:p.Phe28725Leu
XM_017004822.1:c.83215T>C (TTN)	XP_016860311.1:p.Phe27739Leu
XM_017004823.1:c.64831T>C (TTN)	XP_016860312.1:p.Phe21611Leu
XM_024453094.1:c.86326T>C (TTN)	XP_024308862.1:p.Phe28776Leu
XM_024453095.1:c.86323T>C (TTN)	XP_024308863.1:p.Phe28775Leu
XM_024453096.1:c.85756T>C (TTN)	XP_024308864.1:p.Phe28586Leu
XM_024453097.1:c.83098T>C (TTN)	XP_024308865.1:p.Phe27700Leu
XM_024453098.1:c.83017T>C (TTN)	XP_024308866.1:p.Phe27673Leu
XM_024453099.1:c.64780T>C (TTN)	XP_024308867.1:p.Phe21594Leu
XM_024453100.1:c.54634T>C (TTN)	XP_024308868.1:p.Phe18212Leu