Canonical Allele Identifier: CA10605295

Gene: TTN

Linked Data

• ClinVar Variation Id: 285924
• ClinVar RCV Id: RCV000259591 ; RCV001079023 ; RCV001526958 ; RCV002348002 ; RCV003920099
• dbSNP Id: rs530291008
• gnomAD v2: 2-179640852-G-A
• gnomAD v3: 2-178776125-G-A
• gnomAD v4: 2-178776125-G-A
• MyVariant Identifiers: chr2:g.179640852G>A (hg19) ; chr2:g.178776125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178776125G>A , CM000664.2:g.178776125G>A	GRCh38
NC_000002.11:g.179640852G>A , CM000664.1:g.179640852G>A	GRCh37
NC_000002.10:g.179349097G>A	NCBI36
NG_011618.3:g.59678C>T , LRG_391:g.59678C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.5739C>T	ENSP00000343764.6:p.Thr1913=
ENST00000342175.11:c.5601C>T	ENSP00000340554.6:p.Thr1867=
ENST00000359218.10:c.5601C>T	ENSP00000352154.5:p.Thr1867=
ENST00000360870.10:c.5739C>T MANE Plus Clinical	ENSP00000354117.4:p.Thr1913=
ENST00000342175.10:c.5601C>T	ENSP00000340554.6:p.Thr1867=
ENST00000342992.10:c.5739C>T	ENSP00000343764.6:p.Thr1913=
ENST00000359218.9:c.5601C>T	ENSP00000352154.5:p.Thr1867=
ENST00000360870.9:c.5739C>T	ENSP00000354117.4:p.Thr1913=
ENST00000460472.6:c.5601C>T	ENSP00000434586.1:p.Thr1867=
ENST00000589042.5:c.5739C>T MANE Select	ENSP00000467141.1:p.Thr1913=
ENST00000591111.5:c.5739C>T	ENSP00000465570.1:p.Thr1913=
ENST00000615779.4:c.5739C>T	ENSP00000483597.1:p.Thr1913=
NM_001256850.1:c.5739C>T	NP_001243779.1:p.Thr1913=
NM_001267550.2:c.5739C>T MANE Select	NP_001254479.2:p.Thr1913=
NM_003319.4:c.5601C>T	NP_003310.4:p.Thr1867=
NM_133378.4:c.5739C>T	NP_596869.4:p.Thr1913=
NM_133379.4:c.5739C>T , LRG_391t2:c.5739C>T	NP_596870.2:p.Thr1913=
NM_133432.3:c.5601C>T	NP_597676.3:p.Thr1867=
NM_133437.4:c.5601C>T	NP_597681.4:p.Thr1867=
XM_011511729.1:c.5787C>T	XP_011510031.1:p.Thr1929=
XM_011511730.1:c.5787C>T	XP_011510032.1:p.Thr1929=
XM_011511731.1:c.5646C>T	XP_011510033.1:p.Thr1882=
XM_011511732.1:c.5784C>T	XP_011510034.1:p.Thr1928=
XM_017004819.1:c.5742C>T	XP_016860308.1:p.Thr1914=
XM_017004820.1:c.5742C>T	XP_016860309.1:p.Thr1914=
XM_017004821.1:c.5739C>T	XP_016860310.1:p.Thr1913=
XM_017004822.1:c.5742C>T	XP_016860311.1:p.Thr1914=
XM_017004823.1:c.5742C>T	XP_016860312.1:p.Thr1914=
XM_024453094.1:c.5742C>T	XP_024308862.1:p.Thr1914=
XM_024453095.1:c.5742C>T	XP_024308863.1:p.Thr1914=
XM_024453096.1:c.5742C>T	XP_024308864.1:p.Thr1914=
XM_024453097.1:c.5742C>T	XP_024308865.1:p.Thr1914=
XM_024453098.1:c.5742C>T	XP_024308866.1:p.Thr1914=
XM_024453099.1:c.5742C>T	XP_024308867.1:p.Thr1914=
NM_133379.5:c.5739C>T MANE Plus Clinical	NP_596870.2:p.Thr1913=