Canonical Allele Identifier: CA60996714

Gene: TTN

Linked Data

• ClinVar Variation Id: 1149633
• ClinVar RCV Id: RCV001489933
• dbSNP Id: rs369800238
• gnomAD v3: 2-178624502-A-T
• gnomAD v4: 2-178624502-A-T
• MyVariant Identifiers: chr2:g.179489229A>T (hg19) ; chr2:g.178624502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624502A>T , CM000664.2:g.178624502A>T	GRCh38
NC_000002.11:g.179489229A>T , CM000664.1:g.179489229A>T	GRCh37
NC_000002.10:g.179197474A>T	NCBI36
NG_011618.3:g.211301T>A , LRG_391:g.211301T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37074T>A	ENSP00000343764.6:p.Ala12358=
ENST00000342175.11:c.18159T>A	ENSP00000340554.6:p.Ala6053=
ENST00000359218.10:c.17958T>A	ENSP00000352154.5:p.Ala5986=
ENST00000342175.10:c.18159T>A	ENSP00000340554.6:p.Ala6053=
ENST00000342992.10:c.37074T>A	ENSP00000343764.6:p.Ala12358=
ENST00000359218.9:c.17958T>A	ENSP00000352154.5:p.Ala5986=
ENST00000460472.6:c.17583T>A	ENSP00000434586.1:p.Ala5861=
ENST00000589042.5:c.44778T>A MANE Select	ENSP00000467141.1:p.Ala14926=
ENST00000591111.5:c.39855T>A	ENSP00000465570.1:p.Ala13285=
ENST00000615779.4:c.39855T>A	ENSP00000483597.1:p.Ala13285=
NM_001256850.1:c.39855T>A	NP_001243779.1:p.Ala13285=
NM_001267550.2:c.44778T>A MANE Select	NP_001254479.2:p.Ala14926=
NM_003319.4:c.17583T>A	NP_003310.4:p.Ala5861=
NM_133378.4:c.37074T>A	NP_596869.4:p.Ala12358=
NM_133432.3:c.17958T>A	NP_597676.3:p.Ala5986=
NM_133437.4:c.18159T>A	NP_597681.4:p.Ala6053=
XM_011511729.1:c.43875T>A	XP_011510031.1:p.Ala14625=
XM_011511730.1:c.17769T>A	XP_011510032.1:p.Ala5923=
XM_011511731.1:c.17628T>A	XP_011510033.1:p.Ala5876=
XM_017004819.1:c.43671T>A	XP_016860308.1:p.Ala14557=
XM_017004820.1:c.39069T>A	XP_016860309.1:p.Ala13023=
XM_017004821.1:c.39066T>A	XP_016860310.1:p.Ala13022=
XM_017004822.1:c.36108T>A	XP_016860311.1:p.Ala12036=
XM_017004823.1:c.17724T>A	XP_016860312.1:p.Ala5908=
XM_024453094.1:c.39219T>A	XP_024308862.1:p.Ala13073=
XM_024453095.1:c.39216T>A	XP_024308863.1:p.Ala13072=
XM_024453096.1:c.38649T>A	XP_024308864.1:p.Ala12883=
XM_024453097.1:c.35991T>A	XP_024308865.1:p.Ala11997=
XM_024453098.1:c.35910T>A	XP_024308866.1:p.Ala11970=
XM_024453099.1:c.17673T>A	XP_024308867.1:p.Ala5891=
XM_024453100.1:c.7527T>A	XP_024308868.1:p.Ala2509=