Canonical Allele Identifier: CA430245151

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2651593
• ClinVar RCV Id: RCV003429395
• MyVariant Identifiers: chr2:g.179416469G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551742G>A , CM000664.2:g.178551742G>A	GRCh38
NC_000002.11:g.179416469G>A , CM000664.1:g.179416469G>A	GRCh37
NC_000002.10:g.179124715G>A	NCBI36
NG_011618.3:g.284061C>T , LRG_391:g.284061C>T
NG_051363.1:g.33916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83454C>T (TTN)	ENSP00000343764.6:p.Ala27818=
ENST00000342175.11:c.64539C>T (TTN)	ENSP00000340554.6:p.Ala21513=
ENST00000359218.10:c.64338C>T (TTN)	ENSP00000352154.5:p.Ala21446=
ENST00000342175.10:c.64539C>T (TTN)	ENSP00000340554.6:p.Ala21513=
ENST00000342992.10:c.83454C>T (TTN)	ENSP00000343764.6:p.Ala27818=
ENST00000359218.9:c.64338C>T (TTN)	ENSP00000352154.5:p.Ala21446=
ENST00000460472.6:c.63963C>T (TTN)	ENSP00000434586.1:p.Ala21321=
ENST00000589042.5:c.91158C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala30386=
ENST00000591111.5:c.86235C>T (TTN)	ENSP00000465570.1:p.Ala28745=
ENST00000615779.4:c.86235C>T (TTN)	ENSP00000483597.1:p.Ala28745=
NM_001256850.1:c.86235C>T (TTN)	NP_001243779.1:p.Ala28745=
NM_001267550.2:c.91158C>T (TTN) MANE Select	NP_001254479.2:p.Ala30386=
NM_003319.4:c.63963C>T (TTN)	NP_003310.4:p.Ala21321=
NM_133378.4:c.83454C>T (TTN)	NP_596869.4:p.Ala27818=
NM_133432.3:c.64338C>T (TTN)	NP_597676.3:p.Ala21446=
NM_133437.4:c.64539C>T (TTN)	NP_597681.4:p.Ala21513=
NR_038271.1:n.447-19558G>A (TTN-AS1)
NR_038272.1:n.2043+9381G>A (TTN-AS1)
XM_011511729.1:c.90255C>T (TTN)	XP_011510031.1:p.Ala30085=
XM_011511730.1:c.64149C>T (TTN)	XP_011510032.1:p.Ala21383=
XM_011511731.1:c.64008C>T (TTN)	XP_011510033.1:p.Ala21336=
XM_017004819.1:c.90051C>T (TTN)	XP_016860308.1:p.Ala30017=
XM_017004820.1:c.85449C>T (TTN)	XP_016860309.1:p.Ala28483=
XM_017004821.1:c.85446C>T (TTN)	XP_016860310.1:p.Ala28482=
XM_017004822.1:c.82488C>T (TTN)	XP_016860311.1:p.Ala27496=
XM_017004823.1:c.64104C>T (TTN)	XP_016860312.1:p.Ala21368=
XM_024453094.1:c.85599C>T (TTN)	XP_024308862.1:p.Ala28533=
XM_024453095.1:c.85596C>T (TTN)	XP_024308863.1:p.Ala28532=
XM_024453096.1:c.85029C>T (TTN)	XP_024308864.1:p.Ala28343=
XM_024453097.1:c.82371C>T (TTN)	XP_024308865.1:p.Ala27457=
XM_024453098.1:c.82290C>T (TTN)	XP_024308866.1:p.Ala27430=
XM_024453099.1:c.64053C>T (TTN)	XP_024308867.1:p.Ala21351=
XM_024453100.1:c.53907C>T (TTN)	XP_024308868.1:p.Ala17969=