Canonical Allele Identifier: CA273585

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 179124
• ClinVar RCV Id: RCV000155909 ; RCV001040492 ; RCV003162636
• dbSNP Id: rs727504646
• MyVariant Identifiers: chr2:g.179415782A>C (hg19) ; chr2:g.178551055A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551055A>C , CM000664.2:g.178551055A>C	GRCh38
NC_000002.11:g.179415782A>C , CM000664.1:g.179415782A>C	GRCh37
NC_000002.10:g.179124028A>C	NCBI36
NG_011618.3:g.284748T>G , LRG_391:g.284748T>G
NG_051363.1:g.33229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83772T>G (TTN)	ENSP00000343764.6:p.Tyr27924Ter
ENST00000342175.11:c.64857T>G (TTN)	ENSP00000340554.6:p.Tyr21619Ter
ENST00000359218.10:c.64656T>G (TTN)	ENSP00000352154.5:p.Tyr21552Ter
ENST00000342175.10:c.64857T>G (TTN)	ENSP00000340554.6:p.Tyr21619Ter
ENST00000342992.10:c.83772T>G (TTN)	ENSP00000343764.6:p.Tyr27924Ter
ENST00000359218.9:c.64656T>G (TTN)	ENSP00000352154.5:p.Tyr21552Ter
ENST00000460472.6:c.64281T>G (TTN)	ENSP00000434586.1:p.Tyr21427Ter
ENST00000589042.5:c.91476T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr30492Ter
ENST00000591111.5:c.86553T>G (TTN)	ENSP00000465570.1:p.Tyr28851Ter
ENST00000615779.4:c.86553T>G (TTN)	ENSP00000483597.1:p.Tyr28851Ter
NM_001256850.1:c.86553T>G (TTN)	NP_001243779.1:p.Tyr28851Ter
NM_001267550.2:c.91476T>G (TTN) MANE Select	NP_001254479.2:p.Tyr30492Ter
NM_003319.4:c.64281T>G (TTN)	NP_003310.4:p.Tyr21427Ter
NM_133378.4:c.83772T>G (TTN)	NP_596869.4:p.Tyr27924Ter
NM_133432.3:c.64656T>G (TTN)	NP_597676.3:p.Tyr21552Ter
NM_133437.4:c.64857T>G (TTN)	NP_597681.4:p.Tyr21619Ter
NR_038271.1:n.447-20245A>C (TTN-AS1)
NR_038272.1:n.2043+8694A>C (TTN-AS1)
XM_011511729.1:c.90573T>G (TTN)	XP_011510031.1:p.Tyr30191Ter
XM_011511730.1:c.64467T>G (TTN)	XP_011510032.1:p.Tyr21489Ter
XM_011511731.1:c.64326T>G (TTN)	XP_011510033.1:p.Tyr21442Ter
XM_017004819.1:c.90369T>G (TTN)	XP_016860308.1:p.Tyr30123Ter
XM_017004820.1:c.85767T>G (TTN)	XP_016860309.1:p.Tyr28589Ter
XM_017004821.1:c.85764T>G (TTN)	XP_016860310.1:p.Tyr28588Ter
XM_017004822.1:c.82806T>G (TTN)	XP_016860311.1:p.Tyr27602Ter
XM_017004823.1:c.64422T>G (TTN)	XP_016860312.1:p.Tyr21474Ter
XM_024453094.1:c.85917T>G (TTN)	XP_024308862.1:p.Tyr28639Ter
XM_024453095.1:c.85914T>G (TTN)	XP_024308863.1:p.Tyr28638Ter
XM_024453096.1:c.85347T>G (TTN)	XP_024308864.1:p.Tyr28449Ter
XM_024453097.1:c.82689T>G (TTN)	XP_024308865.1:p.Tyr27563Ter
XM_024453098.1:c.82608T>G (TTN)	XP_024308866.1:p.Tyr27536Ter
XM_024453099.1:c.64371T>G (TTN)	XP_024308867.1:p.Tyr21457Ter
XM_024453100.1:c.54225T>G (TTN)	XP_024308868.1:p.Tyr18075Ter