Canonical Allele Identifier: CA430270853

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1603189
• ClinVar RCV Id: RCV002146924
• dbSNP Id: rs2154197018
• MyVariant Identifiers: chr2:g.179472306T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607579T>C , CM000664.2:g.178607579T>C	GRCh38
NC_000002.11:g.179472306T>C , CM000664.1:g.179472306T>C	GRCh37
NC_000002.10:g.179180551T>C	NCBI36
NG_011618.3:g.228224A>G , LRG_391:g.228224A>G
NG_051363.1:g.89753T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.45405A>G (TTN)	ENSP00000343764.6:p.Thr15135=
ENST00000342175.11:c.26490A>G (TTN)	ENSP00000340554.6:p.Thr8830=
ENST00000359218.10:c.26289A>G (TTN)	ENSP00000352154.5:p.Thr8763=
ENST00000342175.10:c.26490A>G (TTN)	ENSP00000340554.6:p.Thr8830=
ENST00000342992.10:c.45405A>G (TTN)	ENSP00000343764.6:p.Thr15135=
ENST00000359218.9:c.26289A>G (TTN)	ENSP00000352154.5:p.Thr8763=
ENST00000460472.6:c.25914A>G (TTN)	ENSP00000434586.1:p.Thr8638=
ENST00000589042.5:c.53109A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr17703=
ENST00000591111.5:c.48186A>G (TTN)	ENSP00000465570.1:p.Thr16062=
ENST00000615779.4:c.48186A>G (TTN)	ENSP00000483597.1:p.Thr16062=
NM_001256850.1:c.48186A>G (TTN)	NP_001243779.1:p.Thr16062=
NM_001267550.2:c.53109A>G (TTN) MANE Select	NP_001254479.2:p.Thr17703=
NM_003319.4:c.25914A>G (TTN)	NP_003310.4:p.Thr8638=
NM_133378.4:c.45405A>G (TTN)	NP_596869.4:p.Thr15135=
NM_133432.3:c.26289A>G (TTN)	NP_597676.3:p.Thr8763=
NM_133437.4:c.26490A>G (TTN)	NP_597681.4:p.Thr8830=
NR_038271.1:n.683-588T>C (TTN-AS1)
XM_011511729.1:c.52206A>G (TTN)	XP_011510031.1:p.Thr17402=
XM_011511730.1:c.26100A>G (TTN)	XP_011510032.1:p.Thr8700=
XM_011511731.1:c.25959A>G (TTN)	XP_011510033.1:p.Thr8653=
XM_017004819.1:c.52002A>G (TTN)	XP_016860308.1:p.Thr17334=
XM_017004820.1:c.47400A>G (TTN)	XP_016860309.1:p.Thr15800=
XM_017004821.1:c.47397A>G (TTN)	XP_016860310.1:p.Thr15799=
XM_017004822.1:c.44439A>G (TTN)	XP_016860311.1:p.Thr14813=
XM_017004823.1:c.26055A>G (TTN)	XP_016860312.1:p.Thr8685=
XM_024453094.1:c.47550A>G (TTN)	XP_024308862.1:p.Thr15850=
XM_024453095.1:c.47547A>G (TTN)	XP_024308863.1:p.Thr15849=
XM_024453096.1:c.46980A>G (TTN)	XP_024308864.1:p.Thr15660=
XM_024453097.1:c.44322A>G (TTN)	XP_024308865.1:p.Thr14774=
XM_024453098.1:c.44241A>G (TTN)	XP_024308866.1:p.Thr14747=
XM_024453099.1:c.26004A>G (TTN)	XP_024308867.1:p.Thr8668=
XM_024453100.1:c.15858A>G (TTN)	XP_024308868.1:p.Thr5286=