Canonical Allele Identifier: CA349406833

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530450-T-C
• MyVariant Identifiers: chr2:g.179395177T>C (hg19) ; chr2:g.178530450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530450T>C , CM000664.2:g.178530450T>C	GRCh38
NC_000002.11:g.179395177T>C , CM000664.1:g.179395177T>C	GRCh37
NC_000002.10:g.179103423T>C	NCBI36
NG_011618.3:g.305353A>G , LRG_391:g.305353A>G
NG_051363.1:g.12624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98461A>G (TTN)	ENSP00000343764.6:p.Ile32821Val
ENST00000342175.11:c.79546A>G (TTN)	ENSP00000340554.6:p.Ile26516Val
ENST00000359218.10:c.79345A>G (TTN)	ENSP00000352154.5:p.Ile26449Val
ENST00000342175.10:c.79546A>G (TTN)	ENSP00000340554.6:p.Ile26516Val
ENST00000342992.10:c.98461A>G (TTN)	ENSP00000343764.6:p.Ile32821Val
ENST00000359218.9:c.79345A>G (TTN)	ENSP00000352154.5:p.Ile26449Val
ENST00000460472.6:c.78970A>G (TTN)	ENSP00000434586.1:p.Ile26324Val
ENST00000589042.5:c.106165A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile35389Val
ENST00000591111.5:c.101242A>G (TTN)	ENSP00000465570.1:p.Ile33748Val
ENST00000615779.4:c.101242A>G (TTN)	ENSP00000483597.1:p.Ile33748Val
NM_001256850.1:c.101242A>G (TTN)	NP_001243779.1:p.Ile33748Val
NM_001267550.2:c.106165A>G (TTN) MANE Select	NP_001254479.2:p.Ile35389Val
NM_003319.4:c.78970A>G (TTN)	NP_003310.4:p.Ile26324Val
NM_133378.4:c.98461A>G (TTN)	NP_596869.4:p.Ile32821Val
NM_133432.3:c.79345A>G (TTN)	NP_597676.3:p.Ile26449Val
NM_133437.4:c.79546A>G (TTN)	NP_597681.4:p.Ile26516Val
NR_038271.1:n.446+6814T>C (TTN-AS1)
NR_038272.1:n.220-5282T>C (TTN-AS1)
XM_011511729.1:c.105262A>G (TTN)	XP_011510031.1:p.Ile35088Val
XM_011511730.1:c.79156A>G (TTN)	XP_011510032.1:p.Ile26386Val
XM_011511731.1:c.79015A>G (TTN)	XP_011510033.1:p.Ile26339Val
XM_017004819.1:c.105058A>G (TTN)	XP_016860308.1:p.Ile35020Val
XM_017004820.1:c.100456A>G (TTN)	XP_016860309.1:p.Ile33486Val
XM_017004821.1:c.100453A>G (TTN)	XP_016860310.1:p.Ile33485Val
XM_017004822.1:c.97495A>G (TTN)	XP_016860311.1:p.Ile32499Val
XM_017004823.1:c.79111A>G (TTN)	XP_016860312.1:p.Ile26371Val
XM_024453094.1:c.100606A>G (TTN)	XP_024308862.1:p.Ile33536Val
XM_024453095.1:c.100603A>G (TTN)	XP_024308863.1:p.Ile33535Val
XM_024453096.1:c.100036A>G (TTN)	XP_024308864.1:p.Ile33346Val
XM_024453097.1:c.97378A>G (TTN)	XP_024308865.1:p.Ile32460Val
XM_024453098.1:c.97297A>G (TTN)	XP_024308866.1:p.Ile32433Val
XM_024453099.1:c.79060A>G (TTN)	XP_024308867.1:p.Ile26354Val
XM_024453100.1:c.68914A>G (TTN)	XP_024308868.1:p.Ile22972Val