Canonical Allele Identifier: CA10588327

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 265700
• ClinVar RCV Id: RCV000255219 ; RCV001379833
• dbSNP Id: rs202094100
• MyVariant Identifiers: chr2:g.179478597C>T (hg19) ; chr2:g.178613870C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613870C>T , CM000664.2:g.178613870C>T	GRCh38
NC_000002.11:g.179478597C>T , CM000664.1:g.179478597C>T	GRCh37
NC_000002.10:g.179186842C>T	NCBI36
NG_011618.3:g.221933G>A , LRG_391:g.221933G>A
NG_051363.1:g.96044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41709G>A (TTN)	ENSP00000343764.6:p.Trp13903Ter
ENST00000342175.11:c.22794G>A (TTN)	ENSP00000340554.6:p.Trp7598Ter
ENST00000359218.10:c.22593G>A (TTN)	ENSP00000352154.5:p.Trp7531Ter
ENST00000342175.10:c.22794G>A (TTN)	ENSP00000340554.6:p.Trp7598Ter
ENST00000342992.10:c.41709G>A (TTN)	ENSP00000343764.6:p.Trp13903Ter
ENST00000359218.9:c.22593G>A (TTN)	ENSP00000352154.5:p.Trp7531Ter
ENST00000460472.6:c.22218G>A (TTN)	ENSP00000434586.1:p.Trp7406Ter
ENST00000589042.5:c.49413G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp16471Ter
ENST00000591111.5:c.44490G>A (TTN)	ENSP00000465570.1:p.Trp14830Ter
ENST00000615779.4:c.44490G>A (TTN)	ENSP00000483597.1:p.Trp14830Ter
NM_001256850.1:c.44490G>A (TTN)	NP_001243779.1:p.Trp14830Ter
NM_001267550.2:c.49413G>A (TTN) MANE Select	NP_001254479.2:p.Trp16471Ter
NM_003319.4:c.22218G>A (TTN)	NP_003310.4:p.Trp7406Ter
NM_133378.4:c.41709G>A (TTN)	NP_596869.4:p.Trp13903Ter
NM_133432.3:c.22593G>A (TTN)	NP_597676.3:p.Trp7531Ter
NM_133437.4:c.22794G>A (TTN)	NP_597681.4:p.Trp7598Ter
NR_038271.1:n.783-165C>T (TTN-AS1)
XM_011511729.1:c.48510G>A (TTN)	XP_011510031.1:p.Trp16170Ter
XM_011511730.1:c.22404G>A (TTN)	XP_011510032.1:p.Trp7468Ter
XM_011511731.1:c.22263G>A (TTN)	XP_011510033.1:p.Trp7421Ter
XM_017004819.1:c.48306G>A (TTN)	XP_016860308.1:p.Trp16102Ter
XM_017004820.1:c.43704G>A (TTN)	XP_016860309.1:p.Trp14568Ter
XM_017004821.1:c.43701G>A (TTN)	XP_016860310.1:p.Trp14567Ter
XM_017004822.1:c.40743G>A (TTN)	XP_016860311.1:p.Trp13581Ter
XM_017004823.1:c.22359G>A (TTN)	XP_016860312.1:p.Trp7453Ter
XM_024453094.1:c.43854G>A (TTN)	XP_024308862.1:p.Trp14618Ter
XM_024453095.1:c.43851G>A (TTN)	XP_024308863.1:p.Trp14617Ter
XM_024453096.1:c.43284G>A (TTN)	XP_024308864.1:p.Trp14428Ter
XM_024453097.1:c.40626G>A (TTN)	XP_024308865.1:p.Trp13542Ter
XM_024453098.1:c.40545G>A (TTN)	XP_024308866.1:p.Trp13515Ter
XM_024453099.1:c.22308G>A (TTN)	XP_024308867.1:p.Trp7436Ter
XM_024453100.1:c.12162G>A (TTN)	XP_024308868.1:p.Trp4054Ter