Canonical Allele Identifier: CA60953516

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1505993
• ClinVar RCV Id: RCV002035882
• dbSNP Id: rs935907208
• gnomAD v4: 2-178530609-A-C
• MyVariant Identifiers: chr2:g.179395336A>C (hg19) ; chr2:g.178530609A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530609A>C , CM000664.2:g.178530609A>C	GRCh38
NC_000002.11:g.179395336A>C , CM000664.1:g.179395336A>C	GRCh37
NC_000002.10:g.179103582A>C	NCBI36
NG_011618.3:g.305194T>G , LRG_391:g.305194T>G
NG_051363.1:g.12783A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98302T>G (TTN)	ENSP00000343764.6:p.Tyr32768Asp
ENST00000342175.11:c.79387T>G (TTN)	ENSP00000340554.6:p.Tyr26463Asp
ENST00000359218.10:c.79186T>G (TTN)	ENSP00000352154.5:p.Tyr26396Asp
ENST00000342175.10:c.79387T>G (TTN)	ENSP00000340554.6:p.Tyr26463Asp
ENST00000342992.10:c.98302T>G (TTN)	ENSP00000343764.6:p.Tyr32768Asp
ENST00000359218.9:c.79186T>G (TTN)	ENSP00000352154.5:p.Tyr26396Asp
ENST00000460472.6:c.78811T>G (TTN)	ENSP00000434586.1:p.Tyr26271Asp
ENST00000589042.5:c.106006T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr35336Asp
ENST00000591111.5:c.101083T>G (TTN)	ENSP00000465570.1:p.Tyr33695Asp
ENST00000615779.4:c.101083T>G (TTN)	ENSP00000483597.1:p.Tyr33695Asp
NM_001256850.1:c.101083T>G (TTN)	NP_001243779.1:p.Tyr33695Asp
NM_001267550.2:c.106006T>G (TTN) MANE Select	NP_001254479.2:p.Tyr35336Asp
NM_003319.4:c.78811T>G (TTN)	NP_003310.4:p.Tyr26271Asp
NM_133378.4:c.98302T>G (TTN)	NP_596869.4:p.Tyr32768Asp
NM_133432.3:c.79186T>G (TTN)	NP_597676.3:p.Tyr26396Asp
NM_133437.4:c.79387T>G (TTN)	NP_597681.4:p.Tyr26463Asp
NR_038271.1:n.446+6973A>C (TTN-AS1)
NR_038272.1:n.220-5123A>C (TTN-AS1)
XM_011511729.1:c.105103T>G (TTN)	XP_011510031.1:p.Tyr35035Asp
XM_011511730.1:c.78997T>G (TTN)	XP_011510032.1:p.Tyr26333Asp
XM_011511731.1:c.78856T>G (TTN)	XP_011510033.1:p.Tyr26286Asp
XM_017004819.1:c.104899T>G (TTN)	XP_016860308.1:p.Tyr34967Asp
XM_017004820.1:c.100297T>G (TTN)	XP_016860309.1:p.Tyr33433Asp
XM_017004821.1:c.100294T>G (TTN)	XP_016860310.1:p.Tyr33432Asp
XM_017004822.1:c.97336T>G (TTN)	XP_016860311.1:p.Tyr32446Asp
XM_017004823.1:c.78952T>G (TTN)	XP_016860312.1:p.Tyr26318Asp
XM_024453094.1:c.100447T>G (TTN)	XP_024308862.1:p.Tyr33483Asp
XM_024453095.1:c.100444T>G (TTN)	XP_024308863.1:p.Tyr33482Asp
XM_024453096.1:c.99877T>G (TTN)	XP_024308864.1:p.Tyr33293Asp
XM_024453097.1:c.97219T>G (TTN)	XP_024308865.1:p.Tyr32407Asp
XM_024453098.1:c.97138T>G (TTN)	XP_024308866.1:p.Tyr32380Asp
XM_024453099.1:c.78901T>G (TTN)	XP_024308867.1:p.Tyr26301Asp
XM_024453100.1:c.68755T>G (TTN)	XP_024308868.1:p.Tyr22919Asp