Canonical Allele Identifier: CA349407302

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1439658
• ClinVar RCV Id: RCV001958136
• dbSNP Id: rs1164792965
• MyVariant Identifiers: chr2:g.179395362T>C (hg19) ; chr2:g.178530635T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530635T>C , CM000664.2:g.178530635T>C	GRCh38
NC_000002.11:g.179395362T>C , CM000664.1:g.179395362T>C	GRCh37
NC_000002.10:g.179103608T>C	NCBI36
NG_011618.3:g.305168A>G , LRG_391:g.305168A>G
NG_051363.1:g.12809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98276A>G (TTN)	ENSP00000343764.6:p.Lys32759Arg
ENST00000342175.11:c.79361A>G (TTN)	ENSP00000340554.6:p.Lys26454Arg
ENST00000359218.10:c.79160A>G (TTN)	ENSP00000352154.5:p.Lys26387Arg
ENST00000342175.10:c.79361A>G (TTN)	ENSP00000340554.6:p.Lys26454Arg
ENST00000342992.10:c.98276A>G (TTN)	ENSP00000343764.6:p.Lys32759Arg
ENST00000359218.9:c.79160A>G (TTN)	ENSP00000352154.5:p.Lys26387Arg
ENST00000460472.6:c.78785A>G (TTN)	ENSP00000434586.1:p.Lys26262Arg
ENST00000589042.5:c.105980A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys35327Arg
ENST00000591111.5:c.101057A>G (TTN)	ENSP00000465570.1:p.Lys33686Arg
ENST00000615779.4:c.101057A>G (TTN)	ENSP00000483597.1:p.Lys33686Arg
NM_001256850.1:c.101057A>G (TTN)	NP_001243779.1:p.Lys33686Arg
NM_001267550.2:c.105980A>G (TTN) MANE Select	NP_001254479.2:p.Lys35327Arg
NM_003319.4:c.78785A>G (TTN)	NP_003310.4:p.Lys26262Arg
NM_133378.4:c.98276A>G (TTN)	NP_596869.4:p.Lys32759Arg
NM_133432.3:c.79160A>G (TTN)	NP_597676.3:p.Lys26387Arg
NM_133437.4:c.79361A>G (TTN)	NP_597681.4:p.Lys26454Arg
NR_038271.1:n.446+6999T>C (TTN-AS1)
NR_038272.1:n.220-5097T>C (TTN-AS1)
XM_011511729.1:c.105077A>G (TTN)	XP_011510031.1:p.Lys35026Arg
XM_011511730.1:c.78971A>G (TTN)	XP_011510032.1:p.Lys26324Arg
XM_011511731.1:c.78830A>G (TTN)	XP_011510033.1:p.Lys26277Arg
XM_017004819.1:c.104873A>G (TTN)	XP_016860308.1:p.Lys34958Arg
XM_017004820.1:c.100271A>G (TTN)	XP_016860309.1:p.Lys33424Arg
XM_017004821.1:c.100268A>G (TTN)	XP_016860310.1:p.Lys33423Arg
XM_017004822.1:c.97310A>G (TTN)	XP_016860311.1:p.Lys32437Arg
XM_017004823.1:c.78926A>G (TTN)	XP_016860312.1:p.Lys26309Arg
XM_024453094.1:c.100421A>G (TTN)	XP_024308862.1:p.Lys33474Arg
XM_024453095.1:c.100418A>G (TTN)	XP_024308863.1:p.Lys33473Arg
XM_024453096.1:c.99851A>G (TTN)	XP_024308864.1:p.Lys33284Arg
XM_024453097.1:c.97193A>G (TTN)	XP_024308865.1:p.Lys32398Arg
XM_024453098.1:c.97112A>G (TTN)	XP_024308866.1:p.Lys32371Arg
XM_024453099.1:c.78875A>G (TTN)	XP_024308867.1:p.Lys26292Arg
XM_024453100.1:c.68729A>G (TTN)	XP_024308868.1:p.Lys22910Arg