Canonical Allele Identifier: CA309333

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202412
• ClinVar RCV Id: RCV000184268 ; RCV000699369 ; RCV003165415
• dbSNP Id: rs794729291
• MyVariant Identifiers: chr2:g.179430009G>C (hg19) ; chr2:g.178565282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565282G>C , CM000664.2:g.178565282G>C	GRCh38
NC_000002.11:g.179430009G>C , CM000664.1:g.179430009G>C	GRCh37
NC_000002.10:g.179138255G>C	NCBI36
NG_011618.3:g.270521C>G , LRG_391:g.270521C>G
NG_051363.1:g.47456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.73146C>G (TTN)	ENSP00000343764.6:p.Tyr24382Ter
ENST00000342175.11:c.54231C>G (TTN)	ENSP00000340554.6:p.Tyr18077Ter
ENST00000359218.10:c.54030C>G (TTN)	ENSP00000352154.5:p.Tyr18010Ter
ENST00000342175.10:c.54231C>G (TTN)	ENSP00000340554.6:p.Tyr18077Ter
ENST00000342992.10:c.73146C>G (TTN)	ENSP00000343764.6:p.Tyr24382Ter
ENST00000359218.9:c.54030C>G (TTN)	ENSP00000352154.5:p.Tyr18010Ter
ENST00000460472.6:c.53655C>G (TTN)	ENSP00000434586.1:p.Tyr17885Ter
ENST00000589042.5:c.80850C>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr26950Ter
ENST00000591111.5:c.75927C>G (TTN)	ENSP00000465570.1:p.Tyr25309Ter
ENST00000615779.4:c.75927C>G (TTN)	ENSP00000483597.1:p.Tyr25309Ter
NM_001256850.1:c.75927C>G (TTN)	NP_001243779.1:p.Tyr25309Ter
NM_001267550.2:c.80850C>G (TTN) MANE Select	NP_001254479.2:p.Tyr26950Ter
NM_003319.4:c.53655C>G (TTN)	NP_003310.4:p.Tyr17885Ter
NM_133378.4:c.73146C>G (TTN)	NP_596869.4:p.Tyr24382Ter
NM_133432.3:c.54030C>G (TTN)	NP_597676.3:p.Tyr18010Ter
NM_133437.4:c.54231C>G (TTN)	NP_597681.4:p.Tyr18077Ter
NR_038271.1:n.447-6018G>C (TTN-AS1)
NR_038272.1:n.2044-17290G>C (TTN-AS1)
XM_011511729.1:c.79947C>G (TTN)	XP_011510031.1:p.Tyr26649Ter
XM_011511730.1:c.53841C>G (TTN)	XP_011510032.1:p.Tyr17947Ter
XM_011511731.1:c.53700C>G (TTN)	XP_011510033.1:p.Tyr17900Ter
XM_017004819.1:c.79743C>G (TTN)	XP_016860308.1:p.Tyr26581Ter
XM_017004820.1:c.75141C>G (TTN)	XP_016860309.1:p.Tyr25047Ter
XM_017004821.1:c.75138C>G (TTN)	XP_016860310.1:p.Tyr25046Ter
XM_017004822.1:c.72180C>G (TTN)	XP_016860311.1:p.Tyr24060Ter
XM_017004823.1:c.53796C>G (TTN)	XP_016860312.1:p.Tyr17932Ter
XM_024453094.1:c.75291C>G (TTN)	XP_024308862.1:p.Tyr25097Ter
XM_024453095.1:c.75288C>G (TTN)	XP_024308863.1:p.Tyr25096Ter
XM_024453096.1:c.74721C>G (TTN)	XP_024308864.1:p.Tyr24907Ter
XM_024453097.1:c.72063C>G (TTN)	XP_024308865.1:p.Tyr24021Ter
XM_024453098.1:c.71982C>G (TTN)	XP_024308866.1:p.Tyr23994Ter
XM_024453099.1:c.53745C>G (TTN)	XP_024308867.1:p.Tyr17915Ter
XM_024453100.1:c.43599C>G (TTN)	XP_024308868.1:p.Tyr14533Ter