Canonical Allele Identifier: CA430131214

Gene: TTN

Linked Data

• ClinVar Variation Id: 1568551
• ClinVar RCV Id: RCV002217128
• dbSNP Id: rs2154278041
• MyVariant Identifiers: chr2:g.179553820T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178689093T>G , CM000664.2:g.178689093T>G	GRCh38
NC_000002.11:g.179553820T>G , CM000664.1:g.179553820T>G	GRCh37
NC_000002.10:g.179262065T>G	NCBI36
NG_011618.3:g.146710A>C , LRG_391:g.146710A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.28323A>C	ENSP00000343764.6:p.Ala9441=
ENST00000342175.11:c.13859-46776A>C	ENSP00000340554.6:n.13859-46776A>C
ENST00000359218.10:c.13658-46776A>C	ENSP00000352154.5:n.13658-46776A>C
ENST00000342175.10:c.13859-46776A>C	ENSP00000340554.6:n.13859-46776A>C
ENST00000342992.10:c.28323A>C	ENSP00000343764.6:p.Ala9441=
ENST00000359218.9:c.13658-46776A>C	ENSP00000352154.5:n.13658-46776A>C
ENST00000414766.5:c.1689A>C	ENSP00000401501.1:p.Ala563=
ENST00000460472.6:c.13283-46776A>C	ENSP00000434586.1:n.13283-46776A>C
ENST00000589042.5:c.32055A>C MANE Select	ENSP00000467141.1:p.Ala10685=
ENST00000591111.5:c.31104A>C	ENSP00000465570.1:p.Ala10368=
ENST00000615779.4:c.31104A>C	ENSP00000483597.1:p.Ala10368=
NM_001256850.1:c.31104A>C	NP_001243779.1:p.Ala10368=
NM_001267550.2:c.32055A>C MANE Select	NP_001254479.2:p.Ala10685=
NM_003319.4:c.13283-46776A>C	NP_003310.4:n.13283-46776A>C
NM_133378.4:c.28323A>C	NP_596869.4:p.Ala9441=
NM_133432.3:c.13658-46776A>C	NP_597676.3:n.13658-46776A>C
NM_133437.4:c.13859-46776A>C	NP_597681.4:n.13859-46776A>C
XM_011511729.1:c.31152A>C	XP_011510031.1:p.Ala10384=
XM_011511730.1:c.13469-46776A>C	XP_011510032.1:n.13469-46776A>C
XM_011511731.1:c.13328-46776A>C	XP_011510033.1:n.13328-46776A>C
XM_017004819.1:c.31107A>C	XP_016860308.1:p.Ala10369=
XM_017004820.1:c.28326A>C	XP_016860309.1:p.Ala9442=
XM_017004821.1:c.28323A>C	XP_016860310.1:p.Ala9441=
XM_017004822.1:c.31107A>C	XP_016860311.1:p.Ala10369=
XM_017004823.1:c.13424-46776A>C	XP_016860312.1:n.13424-46776A>C
XM_024453094.1:c.31107A>C	XP_024308862.1:p.Ala10369=
XM_024453095.1:c.31107A>C	XP_024308863.1:p.Ala10369=
XM_024453096.1:c.31107A>C	XP_024308864.1:p.Ala10369=
XM_024453097.1:c.30898+720A>C	XP_024308865.1:n.30898+720A>C
XM_024453098.1:c.30898+720A>C	XP_024308866.1:n.30898+720A>C
XM_024453099.1:c.13424-46776A>C	XP_024308867.1:n.13424-46776A>C