Canonical Allele Identifier: CA1987532

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1386066
• ClinVar RCV Id: RCV001905673
• dbSNP Id: rs373049260
• ExAC: 2:179414534 G / C
• gnomAD v2: 2-179414534-G-C
• gnomAD v3: 2-178549807-G-C
• gnomAD v4: 2-178549807-G-C
• MyVariant Identifiers: chr2:g.179414534G>C (hg19) ; chr2:g.178549807G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549807G>C , CM000664.2:g.178549807G>C	GRCh38
NC_000002.11:g.179414534G>C , CM000664.1:g.179414534G>C	GRCh37
NC_000002.10:g.179122780G>C	NCBI36
NG_011618.3:g.285996C>G , LRG_391:g.285996C>G
NG_051363.1:g.31981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84211C>G (TTN)	ENSP00000343764.6:p.Leu28071Val
ENST00000342175.11:c.65296C>G (TTN)	ENSP00000340554.6:p.Leu21766Val
ENST00000359218.10:c.65095C>G (TTN)	ENSP00000352154.5:p.Leu21699Val
ENST00000342175.10:c.65296C>G (TTN)	ENSP00000340554.6:p.Leu21766Val
ENST00000342992.10:c.84211C>G (TTN)	ENSP00000343764.6:p.Leu28071Val
ENST00000359218.9:c.65095C>G (TTN)	ENSP00000352154.5:p.Leu21699Val
ENST00000460472.6:c.64720C>G (TTN)	ENSP00000434586.1:p.Leu21574Val
ENST00000589042.5:c.91915C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu30639Val
ENST00000591111.5:c.86992C>G (TTN)	ENSP00000465570.1:p.Leu28998Val
ENST00000615779.4:c.86992C>G (TTN)	ENSP00000483597.1:p.Leu28998Val
NM_001256850.1:c.86992C>G (TTN)	NP_001243779.1:p.Leu28998Val
NM_001267550.2:c.91915C>G (TTN) MANE Select	NP_001254479.2:p.Leu30639Val
NM_003319.4:c.64720C>G (TTN)	NP_003310.4:p.Leu21574Val
NM_133378.4:c.84211C>G (TTN)	NP_596869.4:p.Leu28071Val
NM_133432.3:c.65095C>G (TTN)	NP_597676.3:p.Leu21699Val
NM_133437.4:c.65296C>G (TTN)	NP_597681.4:p.Leu21766Val
NR_038271.1:n.447-21493G>C (TTN-AS1)
NR_038272.1:n.2043+7446G>C (TTN-AS1)
XM_011511729.1:c.91012C>G (TTN)	XP_011510031.1:p.Leu30338Val
XM_011511730.1:c.64906C>G (TTN)	XP_011510032.1:p.Leu21636Val
XM_011511731.1:c.64765C>G (TTN)	XP_011510033.1:p.Leu21589Val
XM_017004819.1:c.90808C>G (TTN)	XP_016860308.1:p.Leu30270Val
XM_017004820.1:c.86206C>G (TTN)	XP_016860309.1:p.Leu28736Val
XM_017004821.1:c.86203C>G (TTN)	XP_016860310.1:p.Leu28735Val
XM_017004822.1:c.83245C>G (TTN)	XP_016860311.1:p.Leu27749Val
XM_017004823.1:c.64861C>G (TTN)	XP_016860312.1:p.Leu21621Val
XM_024453094.1:c.86356C>G (TTN)	XP_024308862.1:p.Leu28786Val
XM_024453095.1:c.86353C>G (TTN)	XP_024308863.1:p.Leu28785Val
XM_024453096.1:c.85786C>G (TTN)	XP_024308864.1:p.Leu28596Val
XM_024453097.1:c.83128C>G (TTN)	XP_024308865.1:p.Leu27710Val
XM_024453098.1:c.83047C>G (TTN)	XP_024308866.1:p.Leu27683Val
XM_024453099.1:c.64810C>G (TTN)	XP_024308867.1:p.Leu21604Val
XM_024453100.1:c.54664C>G (TTN)	XP_024308868.1:p.Leu18222Val