Canonical Allele Identifier: CA10602832

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 280190
• ClinVar RCV Id: RCV000267585 ; RCV001855062
• dbSNP Id: rs886041441
• MyVariant Identifiers: chr2:g.179425315A>C (hg19) ; chr2:g.178560588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560588A>C , CM000664.2:g.178560588A>C	GRCh38
NC_000002.11:g.179425315A>C , CM000664.1:g.179425315A>C	GRCh37
NC_000002.10:g.179133561A>C	NCBI36
NG_011618.3:g.275215T>G , LRG_391:g.275215T>G
NG_051363.1:g.42762A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.77840T>G (TTN)	ENSP00000343764.6:p.Leu25947Ter
ENST00000342175.11:c.58925T>G (TTN)	ENSP00000340554.6:p.Leu19642Ter
ENST00000359218.10:c.58724T>G (TTN)	ENSP00000352154.5:p.Leu19575Ter
ENST00000342175.10:c.58925T>G (TTN)	ENSP00000340554.6:p.Leu19642Ter
ENST00000342992.10:c.77840T>G (TTN)	ENSP00000343764.6:p.Leu25947Ter
ENST00000359218.9:c.58724T>G (TTN)	ENSP00000352154.5:p.Leu19575Ter
ENST00000460472.6:c.58349T>G (TTN)	ENSP00000434586.1:p.Leu19450Ter
ENST00000589042.5:c.85544T>G (TTN) MANE Select	ENSP00000467141.1:p.Leu28515Ter
ENST00000591111.5:c.80621T>G (TTN)	ENSP00000465570.1:p.Leu26874Ter
ENST00000615779.4:c.80621T>G (TTN)	ENSP00000483597.1:p.Leu26874Ter
NM_001256850.1:c.80621T>G (TTN)	NP_001243779.1:p.Leu26874Ter
NM_001267550.2:c.85544T>G (TTN) MANE Select	NP_001254479.2:p.Leu28515Ter
NM_003319.4:c.58349T>G (TTN)	NP_003310.4:p.Leu19450Ter
NM_133378.4:c.77840T>G (TTN)	NP_596869.4:p.Leu25947Ter
NM_133432.3:c.58724T>G (TTN)	NP_597676.3:p.Leu19575Ter
NM_133437.4:c.58925T>G (TTN)	NP_597681.4:p.Leu19642Ter
NR_038271.1:n.447-10712A>C (TTN-AS1)
NR_038272.1:n.2043+18227A>C (TTN-AS1)
XM_011511729.1:c.84641T>G (TTN)	XP_011510031.1:p.Leu28214Ter
XM_011511730.1:c.58535T>G (TTN)	XP_011510032.1:p.Leu19512Ter
XM_011511731.1:c.58394T>G (TTN)	XP_011510033.1:p.Leu19465Ter
XM_017004819.1:c.84437T>G (TTN)	XP_016860308.1:p.Leu28146Ter
XM_017004820.1:c.79835T>G (TTN)	XP_016860309.1:p.Leu26612Ter
XM_017004821.1:c.79832T>G (TTN)	XP_016860310.1:p.Leu26611Ter
XM_017004822.1:c.76874T>G (TTN)	XP_016860311.1:p.Leu25625Ter
XM_017004823.1:c.58490T>G (TTN)	XP_016860312.1:p.Leu19497Ter
XM_024453094.1:c.79985T>G (TTN)	XP_024308862.1:p.Leu26662Ter
XM_024453095.1:c.79982T>G (TTN)	XP_024308863.1:p.Leu26661Ter
XM_024453096.1:c.79415T>G (TTN)	XP_024308864.1:p.Leu26472Ter
XM_024453097.1:c.76757T>G (TTN)	XP_024308865.1:p.Leu25586Ter
XM_024453098.1:c.76676T>G (TTN)	XP_024308866.1:p.Leu25559Ter
XM_024453099.1:c.58439T>G (TTN)	XP_024308867.1:p.Leu19480Ter
XM_024453100.1:c.48293T>G (TTN)	XP_024308868.1:p.Leu16098Ter