Canonical Allele Identifier: CA349456544

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409083C>G (hg19) ; chr2:g.178544356C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544356C>G , CM000664.2:g.178544356C>G	GRCh38
NC_000002.11:g.179409083C>G , CM000664.1:g.179409083C>G	GRCh37
NC_000002.10:g.179117329C>G	NCBI36
NG_011618.3:g.291447G>C , LRG_391:g.291447G>C
NG_051363.1:g.26530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88169G>C (TTN)	ENSP00000343764.6:p.Arg29390Pro
ENST00000342175.11:c.69254G>C (TTN)	ENSP00000340554.6:p.Arg23085Pro
ENST00000359218.10:c.69053G>C (TTN)	ENSP00000352154.5:p.Arg23018Pro
ENST00000342175.10:c.69254G>C (TTN)	ENSP00000340554.6:p.Arg23085Pro
ENST00000342992.10:c.88169G>C (TTN)	ENSP00000343764.6:p.Arg29390Pro
ENST00000359218.9:c.69053G>C (TTN)	ENSP00000352154.5:p.Arg23018Pro
ENST00000460472.6:c.68678G>C (TTN)	ENSP00000434586.1:p.Arg22893Pro
ENST00000589042.5:c.95873G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg31958Pro
ENST00000591111.5:c.90950G>C (TTN)	ENSP00000465570.1:p.Arg30317Pro
ENST00000615779.4:c.90950G>C (TTN)	ENSP00000483597.1:p.Arg30317Pro
NM_001256850.1:c.90950G>C (TTN)	NP_001243779.1:p.Arg30317Pro
NM_001267550.2:c.95873G>C (TTN) MANE Select	NP_001254479.2:p.Arg31958Pro
NM_003319.4:c.68678G>C (TTN)	NP_003310.4:p.Arg22893Pro
NM_133378.4:c.88169G>C (TTN)	NP_596869.4:p.Arg29390Pro
NM_133432.3:c.69053G>C (TTN)	NP_597676.3:p.Arg23018Pro
NM_133437.4:c.69254G>C (TTN)	NP_597681.4:p.Arg23085Pro
NR_038271.1:n.446+20720C>G (TTN-AS1)
NR_038272.1:n.2043+1995C>G (TTN-AS1)
XM_011511729.1:c.94970G>C (TTN)	XP_011510031.1:p.Arg31657Pro
XM_011511730.1:c.68864G>C (TTN)	XP_011510032.1:p.Arg22955Pro
XM_011511731.1:c.68723G>C (TTN)	XP_011510033.1:p.Arg22908Pro
XM_017004819.1:c.94766G>C (TTN)	XP_016860308.1:p.Arg31589Pro
XM_017004820.1:c.90164G>C (TTN)	XP_016860309.1:p.Arg30055Pro
XM_017004821.1:c.90161G>C (TTN)	XP_016860310.1:p.Arg30054Pro
XM_017004822.1:c.87203G>C (TTN)	XP_016860311.1:p.Arg29068Pro
XM_017004823.1:c.68819G>C (TTN)	XP_016860312.1:p.Arg22940Pro
XM_024453094.1:c.90314G>C (TTN)	XP_024308862.1:p.Arg30105Pro
XM_024453095.1:c.90311G>C (TTN)	XP_024308863.1:p.Arg30104Pro
XM_024453096.1:c.89744G>C (TTN)	XP_024308864.1:p.Arg29915Pro
XM_024453097.1:c.87086G>C (TTN)	XP_024308865.1:p.Arg29029Pro
XM_024453098.1:c.87005G>C (TTN)	XP_024308866.1:p.Arg29002Pro
XM_024453099.1:c.68768G>C (TTN)	XP_024308867.1:p.Arg22923Pro
XM_024453100.1:c.58622G>C (TTN)	XP_024308868.1:p.Arg19541Pro