Canonical Allele Identifier: CA349665913

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179440956G>C (hg19) ; chr2:g.178576229G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576229G>C , CM000664.2:g.178576229G>C	GRCh38
NC_000002.11:g.179440956G>C , CM000664.1:g.179440956G>C	GRCh37
NC_000002.10:g.179149202G>C	NCBI36
NG_011618.3:g.259574C>G , LRG_391:g.259574C>G
NG_051363.1:g.58403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.62199C>G (TTN)	ENSP00000343764.6:p.Phe20733Leu
ENST00000342175.11:c.43284C>G (TTN)	ENSP00000340554.6:p.Phe14428Leu
ENST00000359218.10:c.43083C>G (TTN)	ENSP00000352154.5:p.Phe14361Leu
ENST00000342175.10:c.43284C>G (TTN)	ENSP00000340554.6:p.Phe14428Leu
ENST00000342992.10:c.62199C>G (TTN)	ENSP00000343764.6:p.Phe20733Leu
ENST00000359218.9:c.43083C>G (TTN)	ENSP00000352154.5:p.Phe14361Leu
ENST00000460472.6:c.42708C>G (TTN)	ENSP00000434586.1:p.Phe14236Leu
ENST00000589042.5:c.69903C>G (TTN) MANE Select	ENSP00000467141.1:p.Phe23301Leu
ENST00000591111.5:c.64980C>G (TTN)	ENSP00000465570.1:p.Phe21660Leu
ENST00000615779.4:c.64980C>G (TTN)	ENSP00000483597.1:p.Phe21660Leu
NM_001256850.1:c.64980C>G (TTN)	NP_001243779.1:p.Phe21660Leu
NM_001267550.2:c.69903C>G (TTN) MANE Select	NP_001254479.2:p.Phe23301Leu
NM_003319.4:c.42708C>G (TTN)	NP_003310.4:p.Phe14236Leu
NM_133378.4:c.62199C>G (TTN)	NP_596869.4:p.Phe20733Leu
NM_133432.3:c.43083C>G (TTN)	NP_597676.3:p.Phe14361Leu
NM_133437.4:c.43284C>G (TTN)	NP_597681.4:p.Phe14428Leu
NR_038271.1:n.596+4780G>C (TTN-AS1)
NR_038272.1:n.2044-6343G>C (TTN-AS1)
XM_011511729.1:c.69000C>G (TTN)	XP_011510031.1:p.Phe23000Leu
XM_011511730.1:c.42894C>G (TTN)	XP_011510032.1:p.Phe14298Leu
XM_011511731.1:c.42753C>G (TTN)	XP_011510033.1:p.Phe14251Leu
XM_017004819.1:c.68796C>G (TTN)	XP_016860308.1:p.Phe22932Leu
XM_017004820.1:c.64194C>G (TTN)	XP_016860309.1:p.Phe21398Leu
XM_017004821.1:c.64191C>G (TTN)	XP_016860310.1:p.Phe21397Leu
XM_017004822.1:c.61233C>G (TTN)	XP_016860311.1:p.Phe20411Leu
XM_017004823.1:c.42849C>G (TTN)	XP_016860312.1:p.Phe14283Leu
XM_024453094.1:c.64344C>G (TTN)	XP_024308862.1:p.Phe21448Leu
XM_024453095.1:c.64341C>G (TTN)	XP_024308863.1:p.Phe21447Leu
XM_024453096.1:c.63774C>G (TTN)	XP_024308864.1:p.Phe21258Leu
XM_024453097.1:c.61116C>G (TTN)	XP_024308865.1:p.Phe20372Leu
XM_024453098.1:c.61035C>G (TTN)	XP_024308866.1:p.Phe20345Leu
XM_024453099.1:c.42798C>G (TTN)	XP_024308867.1:p.Phe14266Leu
XM_024453100.1:c.32652C>G (TTN)	XP_024308868.1:p.Phe10884Leu