Canonical Allele Identifier: CA349583453

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 429894
• ClinVar RCV Id: RCV000494626 ; RCV000845452
• dbSNP Id: rs1131691655
• MyVariant Identifiers: chr2:g.179474496G>C (hg19) ; chr2:g.178609769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609769G>C , CM000664.2:g.178609769G>C	GRCh38
NC_000002.11:g.179474496G>C , CM000664.1:g.179474496G>C	GRCh37
NC_000002.10:g.179182741G>C	NCBI36
NG_011618.3:g.226034C>G , LRG_391:g.226034C>G
NG_051363.1:g.91943G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.43950C>G (TTN)	ENSP00000343764.6:p.Tyr14650Ter
ENST00000342175.11:c.25035C>G (TTN)	ENSP00000340554.6:p.Tyr8345Ter
ENST00000359218.10:c.24834C>G (TTN)	ENSP00000352154.5:p.Tyr8278Ter
ENST00000342175.10:c.25035C>G (TTN)	ENSP00000340554.6:p.Tyr8345Ter
ENST00000342992.10:c.43950C>G (TTN)	ENSP00000343764.6:p.Tyr14650Ter
ENST00000359218.9:c.24834C>G (TTN)	ENSP00000352154.5:p.Tyr8278Ter
ENST00000460472.6:c.24459C>G (TTN)	ENSP00000434586.1:p.Tyr8153Ter
ENST00000589042.5:c.51654C>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr17218Ter
ENST00000591111.5:c.46731C>G (TTN)	ENSP00000465570.1:p.Tyr15577Ter
ENST00000615779.4:c.46731C>G (TTN)	ENSP00000483597.1:p.Tyr15577Ter
NM_001256850.1:c.46731C>G (TTN)	NP_001243779.1:p.Tyr15577Ter
NM_001267550.2:c.51654C>G (TTN) MANE Select	NP_001254479.2:p.Tyr17218Ter
NM_003319.4:c.24459C>G (TTN)	NP_003310.4:p.Tyr8153Ter
NM_133378.4:c.43950C>G (TTN)	NP_596869.4:p.Tyr14650Ter
NM_133432.3:c.24834C>G (TTN)	NP_597676.3:p.Tyr8278Ter
NM_133437.4:c.25035C>G (TTN)	NP_597681.4:p.Tyr8345Ter
NR_038271.1:n.782+1503G>C (TTN-AS1)
XM_011511729.1:c.50751C>G (TTN)	XP_011510031.1:p.Tyr16917Ter
XM_011511730.1:c.24645C>G (TTN)	XP_011510032.1:p.Tyr8215Ter
XM_011511731.1:c.24504C>G (TTN)	XP_011510033.1:p.Tyr8168Ter
XM_017004819.1:c.50547C>G (TTN)	XP_016860308.1:p.Tyr16849Ter
XM_017004820.1:c.45945C>G (TTN)	XP_016860309.1:p.Tyr15315Ter
XM_017004821.1:c.45942C>G (TTN)	XP_016860310.1:p.Tyr15314Ter
XM_017004822.1:c.42984C>G (TTN)	XP_016860311.1:p.Tyr14328Ter
XM_017004823.1:c.24600C>G (TTN)	XP_016860312.1:p.Tyr8200Ter
XM_024453094.1:c.46095C>G (TTN)	XP_024308862.1:p.Tyr15365Ter
XM_024453095.1:c.46092C>G (TTN)	XP_024308863.1:p.Tyr15364Ter
XM_024453096.1:c.45525C>G (TTN)	XP_024308864.1:p.Tyr15175Ter
XM_024453097.1:c.42867C>G (TTN)	XP_024308865.1:p.Tyr14289Ter
XM_024453098.1:c.42786C>G (TTN)	XP_024308866.1:p.Tyr14262Ter
XM_024453099.1:c.24549C>G (TTN)	XP_024308867.1:p.Tyr8183Ter
XM_024453100.1:c.14403C>G (TTN)	XP_024308868.1:p.Tyr4801Ter