Canonical Allele Identifier: CA349405629

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1397267
• ClinVar RCV Id: RCV001906061
• dbSNP Id: rs1688408023
• gnomAD v4: 2-178530113-T-C
• MyVariant Identifiers: chr2:g.179394840T>C (hg19) ; chr2:g.178530113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530113T>C , CM000664.2:g.178530113T>C	GRCh38
NC_000002.11:g.179394840T>C , CM000664.1:g.179394840T>C	GRCh37
NC_000002.10:g.179103086T>C	NCBI36
NG_011618.3:g.305690A>G , LRG_391:g.305690A>G
NG_051363.1:g.12287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98674A>G (TTN)	ENSP00000343764.6:p.Ile32892Val
ENST00000342175.11:c.79759A>G (TTN)	ENSP00000340554.6:p.Ile26587Val
ENST00000359218.10:c.79558A>G (TTN)	ENSP00000352154.5:p.Ile26520Val
ENST00000342175.10:c.79759A>G (TTN)	ENSP00000340554.6:p.Ile26587Val
ENST00000342992.10:c.98674A>G (TTN)	ENSP00000343764.6:p.Ile32892Val
ENST00000359218.9:c.79558A>G (TTN)	ENSP00000352154.5:p.Ile26520Val
ENST00000460472.6:c.79183A>G (TTN)	ENSP00000434586.1:p.Ile26395Val
ENST00000589042.5:c.106378A>G (TTN) MANE Select	ENSP00000467141.1:p.Ile35460Val
ENST00000591111.5:c.101455A>G (TTN)	ENSP00000465570.1:p.Ile33819Val
ENST00000615779.4:c.101455A>G (TTN)	ENSP00000483597.1:p.Ile33819Val
NM_001256850.1:c.101455A>G (TTN)	NP_001243779.1:p.Ile33819Val
NM_001267550.2:c.106378A>G (TTN) MANE Select	NP_001254479.2:p.Ile35460Val
NM_003319.4:c.79183A>G (TTN)	NP_003310.4:p.Ile26395Val
NM_133378.4:c.98674A>G (TTN)	NP_596869.4:p.Ile32892Val
NM_133432.3:c.79558A>G (TTN)	NP_597676.3:p.Ile26520Val
NM_133437.4:c.79759A>G (TTN)	NP_597681.4:p.Ile26587Val
NR_038271.1:n.446+6477T>C (TTN-AS1)
NR_038272.1:n.220-5619T>C (TTN-AS1)
XM_011511729.1:c.105475A>G (TTN)	XP_011510031.1:p.Ile35159Val
XM_011511730.1:c.79369A>G (TTN)	XP_011510032.1:p.Ile26457Val
XM_011511731.1:c.79228A>G (TTN)	XP_011510033.1:p.Ile26410Val
XM_017004819.1:c.105271A>G (TTN)	XP_016860308.1:p.Ile35091Val
XM_017004820.1:c.100669A>G (TTN)	XP_016860309.1:p.Ile33557Val
XM_017004821.1:c.100666A>G (TTN)	XP_016860310.1:p.Ile33556Val
XM_017004822.1:c.97708A>G (TTN)	XP_016860311.1:p.Ile32570Val
XM_017004823.1:c.79324A>G (TTN)	XP_016860312.1:p.Ile26442Val
XM_024453094.1:c.100819A>G (TTN)	XP_024308862.1:p.Ile33607Val
XM_024453095.1:c.100816A>G (TTN)	XP_024308863.1:p.Ile33606Val
XM_024453096.1:c.100249A>G (TTN)	XP_024308864.1:p.Ile33417Val
XM_024453097.1:c.97591A>G (TTN)	XP_024308865.1:p.Ile32531Val
XM_024453098.1:c.97510A>G (TTN)	XP_024308866.1:p.Ile32504Val
XM_024453099.1:c.79273A>G (TTN)	XP_024308867.1:p.Ile26425Val
XM_024453100.1:c.69127A>G (TTN)	XP_024308868.1:p.Ile23043Val