Canonical Allele Identifier: CA430245466

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1132565
• ClinVar RCV Id: RCV001466860
• dbSNP Id: rs1344947849
• gnomAD v2: 2-179417296-G-A
• gnomAD v4: 2-178552569-G-A
• MyVariant Identifiers: chr2:g.179417296G>A (hg19) ; chr2:g.178552569G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552569G>A , CM000664.2:g.178552569G>A	GRCh38
NC_000002.11:g.179417296G>A , CM000664.1:g.179417296G>A	GRCh37
NC_000002.10:g.179125542G>A	NCBI36
NG_011618.3:g.283234C>T , LRG_391:g.283234C>T
NG_051363.1:g.34743G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82627C>T (TTN)	ENSP00000343764.6:p.Leu27543=
ENST00000342175.11:c.63712C>T (TTN)	ENSP00000340554.6:p.Leu21238=
ENST00000359218.10:c.63511C>T (TTN)	ENSP00000352154.5:p.Leu21171=
ENST00000342175.10:c.63712C>T (TTN)	ENSP00000340554.6:p.Leu21238=
ENST00000342992.10:c.82627C>T (TTN)	ENSP00000343764.6:p.Leu27543=
ENST00000359218.9:c.63511C>T (TTN)	ENSP00000352154.5:p.Leu21171=
ENST00000460472.6:c.63136C>T (TTN)	ENSP00000434586.1:p.Leu21046=
ENST00000589042.5:c.90331C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu30111=
ENST00000591111.5:c.85408C>T (TTN)	ENSP00000465570.1:p.Leu28470=
ENST00000615779.4:c.85408C>T (TTN)	ENSP00000483597.1:p.Leu28470=
NM_001256850.1:c.85408C>T (TTN)	NP_001243779.1:p.Leu28470=
NM_001267550.2:c.90331C>T (TTN) MANE Select	NP_001254479.2:p.Leu30111=
NM_003319.4:c.63136C>T (TTN)	NP_003310.4:p.Leu21046=
NM_133378.4:c.82627C>T (TTN)	NP_596869.4:p.Leu27543=
NM_133432.3:c.63511C>T (TTN)	NP_597676.3:p.Leu21171=
NM_133437.4:c.63712C>T (TTN)	NP_597681.4:p.Leu21238=
NR_038271.1:n.447-18731G>A (TTN-AS1)
NR_038272.1:n.2043+10208G>A (TTN-AS1)
XM_011511729.1:c.89428C>T (TTN)	XP_011510031.1:p.Leu29810=
XM_011511730.1:c.63322C>T (TTN)	XP_011510032.1:p.Leu21108=
XM_011511731.1:c.63181C>T (TTN)	XP_011510033.1:p.Leu21061=
XM_017004819.1:c.89224C>T (TTN)	XP_016860308.1:p.Leu29742=
XM_017004820.1:c.84622C>T (TTN)	XP_016860309.1:p.Leu28208=
XM_017004821.1:c.84619C>T (TTN)	XP_016860310.1:p.Leu28207=
XM_017004822.1:c.81661C>T (TTN)	XP_016860311.1:p.Leu27221=
XM_017004823.1:c.63277C>T (TTN)	XP_016860312.1:p.Leu21093=
XM_024453094.1:c.84772C>T (TTN)	XP_024308862.1:p.Leu28258=
XM_024453095.1:c.84769C>T (TTN)	XP_024308863.1:p.Leu28257=
XM_024453096.1:c.84202C>T (TTN)	XP_024308864.1:p.Leu28068=
XM_024453097.1:c.81544C>T (TTN)	XP_024308865.1:p.Leu27182=
XM_024453098.1:c.81463C>T (TTN)	XP_024308866.1:p.Leu27155=
XM_024453099.1:c.63226C>T (TTN)	XP_024308867.1:p.Leu21076=
XM_024453100.1:c.53080C>T (TTN)	XP_024308868.1:p.Leu17694=