Canonical Allele Identifier: CA349573976

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535022
• ClinVar RCV Id: RCV000642779
• dbSNP Id: rs1060503941
• MyVariant Identifiers: chr2:g.179428509A>C (hg19) ; chr2:g.178563782A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178563782A>C , CM000664.2:g.178563782A>C	GRCh38
NC_000002.11:g.179428509A>C , CM000664.1:g.179428509A>C	GRCh37
NC_000002.10:g.179136755A>C	NCBI36
NG_011618.3:g.272021T>G , LRG_391:g.272021T>G
NG_051363.1:g.45956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.74646T>G (TTN)	ENSP00000343764.6:p.Tyr24882Ter
ENST00000342175.11:c.55731T>G (TTN)	ENSP00000340554.6:p.Tyr18577Ter
ENST00000359218.10:c.55530T>G (TTN)	ENSP00000352154.5:p.Tyr18510Ter
ENST00000342175.10:c.55731T>G (TTN)	ENSP00000340554.6:p.Tyr18577Ter
ENST00000342992.10:c.74646T>G (TTN)	ENSP00000343764.6:p.Tyr24882Ter
ENST00000359218.9:c.55530T>G (TTN)	ENSP00000352154.5:p.Tyr18510Ter
ENST00000460472.6:c.55155T>G (TTN)	ENSP00000434586.1:p.Tyr18385Ter
ENST00000589042.5:c.82350T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr27450Ter
ENST00000591111.5:c.77427T>G (TTN)	ENSP00000465570.1:p.Tyr25809Ter
ENST00000615779.4:c.77427T>G (TTN)	ENSP00000483597.1:p.Tyr25809Ter
NM_001256850.1:c.77427T>G (TTN)	NP_001243779.1:p.Tyr25809Ter
NM_001267550.2:c.82350T>G (TTN) MANE Select	NP_001254479.2:p.Tyr27450Ter
NM_003319.4:c.55155T>G (TTN)	NP_003310.4:p.Tyr18385Ter
NM_133378.4:c.74646T>G (TTN)	NP_596869.4:p.Tyr24882Ter
NM_133432.3:c.55530T>G (TTN)	NP_597676.3:p.Tyr18510Ter
NM_133437.4:c.55731T>G (TTN)	NP_597681.4:p.Tyr18577Ter
NR_038271.1:n.447-7518A>C (TTN-AS1)
NR_038272.1:n.2044-18790A>C (TTN-AS1)
XM_011511729.1:c.81447T>G (TTN)	XP_011510031.1:p.Tyr27149Ter
XM_011511730.1:c.55341T>G (TTN)	XP_011510032.1:p.Tyr18447Ter
XM_011511731.1:c.55200T>G (TTN)	XP_011510033.1:p.Tyr18400Ter
XM_017004819.1:c.81243T>G (TTN)	XP_016860308.1:p.Tyr27081Ter
XM_017004820.1:c.76641T>G (TTN)	XP_016860309.1:p.Tyr25547Ter
XM_017004821.1:c.76638T>G (TTN)	XP_016860310.1:p.Tyr25546Ter
XM_017004822.1:c.73680T>G (TTN)	XP_016860311.1:p.Tyr24560Ter
XM_017004823.1:c.55296T>G (TTN)	XP_016860312.1:p.Tyr18432Ter
XM_024453094.1:c.76791T>G (TTN)	XP_024308862.1:p.Tyr25597Ter
XM_024453095.1:c.76788T>G (TTN)	XP_024308863.1:p.Tyr25596Ter
XM_024453096.1:c.76221T>G (TTN)	XP_024308864.1:p.Tyr25407Ter
XM_024453097.1:c.73563T>G (TTN)	XP_024308865.1:p.Tyr24521Ter
XM_024453098.1:c.73482T>G (TTN)	XP_024308866.1:p.Tyr24494Ter
XM_024453099.1:c.55245T>G (TTN)	XP_024308867.1:p.Tyr18415Ter
XM_024453100.1:c.45099T>G (TTN)	XP_024308868.1:p.Tyr15033Ter