Canonical Allele Identifier: CA430296216

Gene: TTN

Linked Data

• ClinVar Variation Id: 1797790
• ClinVar RCV Id: RCV002440040
• MyVariant Identifiers: chr2:g.179605660G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740933G>T , CM000664.2:g.178740933G>T	GRCh38
NC_000002.11:g.179605660G>T , CM000664.1:g.179605660G>T	GRCh37
NC_000002.10:g.179313905G>T	NCBI36
NG_011618.3:g.94870C>A , LRG_391:g.94870C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10361-2573C>A	ENSP00000343764.6:n.10361-2573C>A
ENST00000342175.11:c.11787C>A	ENSP00000340554.6:p.Ala3929=
ENST00000359218.10:c.11586C>A	ENSP00000352154.5:p.Ala3862=
ENST00000342175.10:c.11787C>A	ENSP00000340554.6:p.Ala3929=
ENST00000342992.10:c.10361-2573C>A	ENSP00000343764.6:n.10361-2573C>A
ENST00000359218.9:c.11586C>A	ENSP00000352154.5:p.Ala3862=
ENST00000460472.6:c.11211C>A	ENSP00000434586.1:p.Ala3737=
ENST00000589042.5:c.12300C>A MANE Select	ENSP00000467141.1:p.Ala4100=
ENST00000591111.5:c.11349C>A	ENSP00000465570.1:p.Ala3783=
ENST00000615779.4:c.11349C>A	ENSP00000483597.1:p.Ala3783=
NM_001256850.1:c.11349C>A	NP_001243779.1:p.Ala3783=
NM_001267550.2:c.12300C>A MANE Select	NP_001254479.2:p.Ala4100=
NM_003319.4:c.11211C>A	NP_003310.4:p.Ala3737=
NM_133378.4:c.10361-2573C>A	NP_596869.4:n.10361-2573C>A
NM_133432.3:c.11586C>A	NP_597676.3:p.Ala3862=
NM_133437.4:c.11787C>A	NP_597681.4:p.Ala3929=
XM_011511729.1:c.11397C>A	XP_011510031.1:p.Ala3799=
XM_011511730.1:c.11397C>A	XP_011510032.1:p.Ala3799=
XM_011511731.1:c.11256C>A	XP_011510033.1:p.Ala3752=
XM_017004819.1:c.11352C>A	XP_016860308.1:p.Ala3784=
XM_017004820.1:c.10364-2573C>A	XP_016860309.1:n.10364-2573C>A
XM_017004821.1:c.10361-2573C>A	XP_016860310.1:n.10361-2573C>A
XM_017004822.1:c.11352C>A	XP_016860311.1:p.Ala3784=
XM_017004823.1:c.11352C>A	XP_016860312.1:p.Ala3784=
XM_024453094.1:c.11352C>A	XP_024308862.1:p.Ala3784=
XM_024453095.1:c.11352C>A	XP_024308863.1:p.Ala3784=
XM_024453096.1:c.11352C>A	XP_024308864.1:p.Ala3784=
XM_024453097.1:c.11352C>A	XP_024308865.1:p.Ala3784=
XM_024453098.1:c.11352C>A	XP_024308866.1:p.Ala3784=
XM_024453099.1:c.11352C>A	XP_024308867.1:p.Ala3784=