Canonical Allele Identifier: CA430245136

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416460C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551733C>G , CM000664.2:g.178551733C>G	GRCh38
NC_000002.11:g.179416460C>G , CM000664.1:g.179416460C>G	GRCh37
NC_000002.10:g.179124706C>G	NCBI36
NG_011618.3:g.284070G>C , LRG_391:g.284070G>C
NG_051363.1:g.33907C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83463G>C (TTN)	ENSP00000343764.6:p.Leu27821=
ENST00000342175.11:c.64548G>C (TTN)	ENSP00000340554.6:p.Leu21516=
ENST00000359218.10:c.64347G>C (TTN)	ENSP00000352154.5:p.Leu21449=
ENST00000342175.10:c.64548G>C (TTN)	ENSP00000340554.6:p.Leu21516=
ENST00000342992.10:c.83463G>C (TTN)	ENSP00000343764.6:p.Leu27821=
ENST00000359218.9:c.64347G>C (TTN)	ENSP00000352154.5:p.Leu21449=
ENST00000460472.6:c.63972G>C (TTN)	ENSP00000434586.1:p.Leu21324=
ENST00000589042.5:c.91167G>C (TTN) MANE Select	ENSP00000467141.1:p.Leu30389=
ENST00000591111.5:c.86244G>C (TTN)	ENSP00000465570.1:p.Leu28748=
ENST00000615779.4:c.86244G>C (TTN)	ENSP00000483597.1:p.Leu28748=
NM_001256850.1:c.86244G>C (TTN)	NP_001243779.1:p.Leu28748=
NM_001267550.2:c.91167G>C (TTN) MANE Select	NP_001254479.2:p.Leu30389=
NM_003319.4:c.63972G>C (TTN)	NP_003310.4:p.Leu21324=
NM_133378.4:c.83463G>C (TTN)	NP_596869.4:p.Leu27821=
NM_133432.3:c.64347G>C (TTN)	NP_597676.3:p.Leu21449=
NM_133437.4:c.64548G>C (TTN)	NP_597681.4:p.Leu21516=
NR_038271.1:n.447-19567C>G (TTN-AS1)
NR_038272.1:n.2043+9372C>G (TTN-AS1)
XM_011511729.1:c.90264G>C (TTN)	XP_011510031.1:p.Leu30088=
XM_011511730.1:c.64158G>C (TTN)	XP_011510032.1:p.Leu21386=
XM_011511731.1:c.64017G>C (TTN)	XP_011510033.1:p.Leu21339=
XM_017004819.1:c.90060G>C (TTN)	XP_016860308.1:p.Leu30020=
XM_017004820.1:c.85458G>C (TTN)	XP_016860309.1:p.Leu28486=
XM_017004821.1:c.85455G>C (TTN)	XP_016860310.1:p.Leu28485=
XM_017004822.1:c.82497G>C (TTN)	XP_016860311.1:p.Leu27499=
XM_017004823.1:c.64113G>C (TTN)	XP_016860312.1:p.Leu21371=
XM_024453094.1:c.85608G>C (TTN)	XP_024308862.1:p.Leu28536=
XM_024453095.1:c.85605G>C (TTN)	XP_024308863.1:p.Leu28535=
XM_024453096.1:c.85038G>C (TTN)	XP_024308864.1:p.Leu28346=
XM_024453097.1:c.82380G>C (TTN)	XP_024308865.1:p.Leu27460=
XM_024453098.1:c.82299G>C (TTN)	XP_024308866.1:p.Leu27433=
XM_024453099.1:c.64062G>C (TTN)	XP_024308867.1:p.Leu21354=
XM_024453100.1:c.53916G>C (TTN)	XP_024308868.1:p.Leu17972=