Canonical Allele Identifier: CA430259706

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442731C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578004C>G , CM000664.2:g.178578004C>G	GRCh38
NC_000002.11:g.179442731C>G , CM000664.1:g.179442731C>G	GRCh37
NC_000002.10:g.179150977C>G	NCBI36
NG_011618.3:g.257799G>C , LRG_391:g.257799G>C
NG_051363.1:g.60178C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60807G>C (TTN)	ENSP00000343764.6:p.Val20269=
ENST00000342175.11:c.41892G>C (TTN)	ENSP00000340554.6:p.Val13964=
ENST00000359218.10:c.41691G>C (TTN)	ENSP00000352154.5:p.Val13897=
ENST00000342175.10:c.41892G>C (TTN)	ENSP00000340554.6:p.Val13964=
ENST00000342992.10:c.60807G>C (TTN)	ENSP00000343764.6:p.Val20269=
ENST00000359218.9:c.41691G>C (TTN)	ENSP00000352154.5:p.Val13897=
ENST00000460472.6:c.41316G>C (TTN)	ENSP00000434586.1:p.Val13772=
ENST00000589042.5:c.68511G>C (TTN) MANE Select	ENSP00000467141.1:p.Val22837=
ENST00000591111.5:c.63588G>C (TTN)	ENSP00000465570.1:p.Val21196=
ENST00000615779.4:c.63588G>C (TTN)	ENSP00000483597.1:p.Val21196=
NM_001256850.1:c.63588G>C (TTN)	NP_001243779.1:p.Val21196=
NM_001267550.2:c.68511G>C (TTN) MANE Select	NP_001254479.2:p.Val22837=
NM_003319.4:c.41316G>C (TTN)	NP_003310.4:p.Val13772=
NM_133378.4:c.60807G>C (TTN)	NP_596869.4:p.Val20269=
NM_133432.3:c.41691G>C (TTN)	NP_597676.3:p.Val13897=
NM_133437.4:c.41892G>C (TTN)	NP_597681.4:p.Val13964=
NR_038271.1:n.596+6555C>G (TTN-AS1)
NR_038272.1:n.2044-4568C>G (TTN-AS1)
XM_011511729.1:c.67608G>C (TTN)	XP_011510031.1:p.Val22536=
XM_011511730.1:c.41502G>C (TTN)	XP_011510032.1:p.Val13834=
XM_011511731.1:c.41361G>C (TTN)	XP_011510033.1:p.Val13787=
XM_017004819.1:c.67404G>C (TTN)	XP_016860308.1:p.Val22468=
XM_017004820.1:c.62802G>C (TTN)	XP_016860309.1:p.Val20934=
XM_017004821.1:c.62799G>C (TTN)	XP_016860310.1:p.Val20933=
XM_017004822.1:c.59841G>C (TTN)	XP_016860311.1:p.Val19947=
XM_017004823.1:c.41457G>C (TTN)	XP_016860312.1:p.Val13819=
XM_024453094.1:c.62952G>C (TTN)	XP_024308862.1:p.Val20984=
XM_024453095.1:c.62949G>C (TTN)	XP_024308863.1:p.Val20983=
XM_024453096.1:c.62382G>C (TTN)	XP_024308864.1:p.Val20794=
XM_024453097.1:c.59724G>C (TTN)	XP_024308865.1:p.Val19908=
XM_024453098.1:c.59643G>C (TTN)	XP_024308866.1:p.Val19881=
XM_024453099.1:c.41406G>C (TTN)	XP_024308867.1:p.Val13802=
XM_024453100.1:c.31260G>C (TTN)	XP_024308868.1:p.Val10420=