Canonical Allele Identifier: CA349471244

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2442819
• ClinVar RCV Id: RCV003150625
• gnomAD v4: 2-178546735-A-G
• MyVariant Identifiers: chr2:g.179411462A>G (hg19) ; chr2:g.178546735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546735A>G , CM000664.2:g.178546735A>G	GRCh38
NC_000002.11:g.179411462A>G , CM000664.1:g.179411462A>G	GRCh37
NC_000002.10:g.179119708A>G	NCBI36
NG_011618.3:g.289068T>C , LRG_391:g.289068T>C
NG_051363.1:g.28909A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86989T>C (TTN)	ENSP00000343764.6:p.Ser28997Pro
ENST00000342175.11:c.68074T>C (TTN)	ENSP00000340554.6:p.Ser22692Pro
ENST00000359218.10:c.67873T>C (TTN)	ENSP00000352154.5:p.Ser22625Pro
ENST00000342175.10:c.68074T>C (TTN)	ENSP00000340554.6:p.Ser22692Pro
ENST00000342992.10:c.86989T>C (TTN)	ENSP00000343764.6:p.Ser28997Pro
ENST00000359218.9:c.67873T>C (TTN)	ENSP00000352154.5:p.Ser22625Pro
ENST00000460472.6:c.67498T>C (TTN)	ENSP00000434586.1:p.Ser22500Pro
ENST00000589042.5:c.94693T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser31565Pro
ENST00000591111.5:c.89770T>C (TTN)	ENSP00000465570.1:p.Ser29924Pro
ENST00000615779.4:c.89770T>C (TTN)	ENSP00000483597.1:p.Ser29924Pro
NM_001256850.1:c.89770T>C (TTN)	NP_001243779.1:p.Ser29924Pro
NM_001267550.2:c.94693T>C (TTN) MANE Select	NP_001254479.2:p.Ser31565Pro
NM_003319.4:c.67498T>C (TTN)	NP_003310.4:p.Ser22500Pro
NM_133378.4:c.86989T>C (TTN)	NP_596869.4:p.Ser28997Pro
NM_133432.3:c.67873T>C (TTN)	NP_597676.3:p.Ser22625Pro
NM_133437.4:c.68074T>C (TTN)	NP_597681.4:p.Ser22692Pro
NR_038271.1:n.446+23099A>G (TTN-AS1)
NR_038272.1:n.2043+4374A>G (TTN-AS1)
XM_011511729.1:c.93790T>C (TTN)	XP_011510031.1:p.Ser31264Pro
XM_011511730.1:c.67684T>C (TTN)	XP_011510032.1:p.Ser22562Pro
XM_011511731.1:c.67543T>C (TTN)	XP_011510033.1:p.Ser22515Pro
XM_017004819.1:c.93586T>C (TTN)	XP_016860308.1:p.Ser31196Pro
XM_017004820.1:c.88984T>C (TTN)	XP_016860309.1:p.Ser29662Pro
XM_017004821.1:c.88981T>C (TTN)	XP_016860310.1:p.Ser29661Pro
XM_017004822.1:c.86023T>C (TTN)	XP_016860311.1:p.Ser28675Pro
XM_017004823.1:c.67639T>C (TTN)	XP_016860312.1:p.Ser22547Pro
XM_024453094.1:c.89134T>C (TTN)	XP_024308862.1:p.Ser29712Pro
XM_024453095.1:c.89131T>C (TTN)	XP_024308863.1:p.Ser29711Pro
XM_024453096.1:c.88564T>C (TTN)	XP_024308864.1:p.Ser29522Pro
XM_024453097.1:c.85906T>C (TTN)	XP_024308865.1:p.Ser28636Pro
XM_024453098.1:c.85825T>C (TTN)	XP_024308866.1:p.Ser28609Pro
XM_024453099.1:c.67588T>C (TTN)	XP_024308867.1:p.Ser22530Pro
XM_024453100.1:c.57442T>C (TTN)	XP_024308868.1:p.Ser19148Pro