Canonical Allele Identifier: CA349450843

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 598664
• ClinVar RCV Id: RCV000735113
• dbSNP Id: rs1559126910
• MyVariant Identifiers: chr2:g.179408611G>C (hg19) ; chr2:g.178543884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543884G>C , CM000664.2:g.178543884G>C	GRCh38
NC_000002.11:g.179408611G>C , CM000664.1:g.179408611G>C	GRCh37
NC_000002.10:g.179116857G>C	NCBI36
NG_011618.3:g.291919C>G , LRG_391:g.291919C>G
NG_051363.1:g.26058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88556C>G (TTN)	ENSP00000343764.6:p.Ala29519Gly
ENST00000342175.11:c.69641C>G (TTN)	ENSP00000340554.6:p.Ala23214Gly
ENST00000359218.10:c.69440C>G (TTN)	ENSP00000352154.5:p.Ala23147Gly
ENST00000342175.10:c.69641C>G (TTN)	ENSP00000340554.6:p.Ala23214Gly
ENST00000342992.10:c.88556C>G (TTN)	ENSP00000343764.6:p.Ala29519Gly
ENST00000359218.9:c.69440C>G (TTN)	ENSP00000352154.5:p.Ala23147Gly
ENST00000460472.6:c.69065C>G (TTN)	ENSP00000434586.1:p.Ala23022Gly
ENST00000589042.5:c.96260C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala32087Gly
ENST00000591111.5:c.91337C>G (TTN)	ENSP00000465570.1:p.Ala30446Gly
ENST00000615779.4:c.91337C>G (TTN)	ENSP00000483597.1:p.Ala30446Gly
NM_001256850.1:c.91337C>G (TTN)	NP_001243779.1:p.Ala30446Gly
NM_001267550.2:c.96260C>G (TTN) MANE Select	NP_001254479.2:p.Ala32087Gly
NM_003319.4:c.69065C>G (TTN)	NP_003310.4:p.Ala23022Gly
NM_133378.4:c.88556C>G (TTN)	NP_596869.4:p.Ala29519Gly
NM_133432.3:c.69440C>G (TTN)	NP_597676.3:p.Ala23147Gly
NM_133437.4:c.69641C>G (TTN)	NP_597681.4:p.Ala23214Gly
NR_038271.1:n.446+20248G>C (TTN-AS1)
NR_038272.1:n.2043+1523G>C (TTN-AS1)
XM_011511729.1:c.95357C>G (TTN)	XP_011510031.1:p.Ala31786Gly
XM_011511730.1:c.69251C>G (TTN)	XP_011510032.1:p.Ala23084Gly
XM_011511731.1:c.69110C>G (TTN)	XP_011510033.1:p.Ala23037Gly
XM_017004819.1:c.95153C>G (TTN)	XP_016860308.1:p.Ala31718Gly
XM_017004820.1:c.90551C>G (TTN)	XP_016860309.1:p.Ala30184Gly
XM_017004821.1:c.90548C>G (TTN)	XP_016860310.1:p.Ala30183Gly
XM_017004822.1:c.87590C>G (TTN)	XP_016860311.1:p.Ala29197Gly
XM_017004823.1:c.69206C>G (TTN)	XP_016860312.1:p.Ala23069Gly
XM_024453094.1:c.90701C>G (TTN)	XP_024308862.1:p.Ala30234Gly
XM_024453095.1:c.90698C>G (TTN)	XP_024308863.1:p.Ala30233Gly
XM_024453096.1:c.90131C>G (TTN)	XP_024308864.1:p.Ala30044Gly
XM_024453097.1:c.87473C>G (TTN)	XP_024308865.1:p.Ala29158Gly
XM_024453098.1:c.87392C>G (TTN)	XP_024308866.1:p.Ala29131Gly
XM_024453099.1:c.69155C>G (TTN)	XP_024308867.1:p.Ala23052Gly
XM_024453100.1:c.59009C>G (TTN)	XP_024308868.1:p.Ala19670Gly