Canonical Allele Identifier: CA10613266

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332799
• ClinVar RCV Id: RCV000290444 ; RCV000347778 ; RCV000352216 ; RCV000407857 ; RCV000407870 ; RCV003137948
• dbSNP Id: rs747715690
• gnomAD v4: 2-178580323-A-G
• MyVariant Identifiers: chr2:g.179445050A>G (hg19) ; chr2:g.178580323A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178580323A>G , CM000664.2:g.178580323A>G	GRCh38
NC_000002.11:g.179445050A>G , CM000664.1:g.179445050A>G	GRCh37
NC_000002.10:g.179153296A>G	NCBI36
NG_011618.3:g.255480T>C , LRG_391:g.255480T>C
NG_051363.1:g.62497A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.59352T>C (TTN)	ENSP00000343764.6:p.Leu19784=
ENST00000342175.11:c.40437T>C (TTN)	ENSP00000340554.6:p.Leu13479=
ENST00000359218.10:c.40236T>C (TTN)	ENSP00000352154.5:p.Leu13412=
ENST00000342175.10:c.40437T>C (TTN)	ENSP00000340554.6:p.Leu13479=
ENST00000342992.10:c.59352T>C (TTN)	ENSP00000343764.6:p.Leu19784=
ENST00000359218.9:c.40236T>C (TTN)	ENSP00000352154.5:p.Leu13412=
ENST00000460472.6:c.39861T>C (TTN)	ENSP00000434586.1:p.Leu13287=
ENST00000589042.5:c.67056T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu22352=
ENST00000591111.5:c.62133T>C (TTN)	ENSP00000465570.1:p.Leu20711=
ENST00000615779.4:c.62133T>C (TTN)	ENSP00000483597.1:p.Leu20711=
NM_001256850.1:c.62133T>C (TTN)	NP_001243779.1:p.Leu20711=
NM_001267550.2:c.67056T>C (TTN) MANE Select	NP_001254479.2:p.Leu22352=
NM_003319.4:c.39861T>C (TTN)	NP_003310.4:p.Leu13287=
NM_133378.4:c.59352T>C (TTN)	NP_596869.4:p.Leu19784=
NM_133432.3:c.40236T>C (TTN)	NP_597676.3:p.Leu13412=
NM_133437.4:c.40437T>C (TTN)	NP_597681.4:p.Leu13479=
NR_038271.1:n.596+8874A>G (TTN-AS1)
NR_038272.1:n.2044-2249A>G (TTN-AS1)
XM_011511729.1:c.66153T>C (TTN)	XP_011510031.1:p.Leu22051=
XM_011511730.1:c.40047T>C (TTN)	XP_011510032.1:p.Leu13349=
XM_011511731.1:c.39906T>C (TTN)	XP_011510033.1:p.Leu13302=
XM_017004819.1:c.65949T>C (TTN)	XP_016860308.1:p.Leu21983=
XM_017004820.1:c.61347T>C (TTN)	XP_016860309.1:p.Leu20449=
XM_017004821.1:c.61344T>C (TTN)	XP_016860310.1:p.Leu20448=
XM_017004822.1:c.58386T>C (TTN)	XP_016860311.1:p.Leu19462=
XM_017004823.1:c.40002T>C (TTN)	XP_016860312.1:p.Leu13334=
XM_024453094.1:c.61497T>C (TTN)	XP_024308862.1:p.Leu20499=
XM_024453095.1:c.61494T>C (TTN)	XP_024308863.1:p.Leu20498=
XM_024453096.1:c.60927T>C (TTN)	XP_024308864.1:p.Leu20309=
XM_024453097.1:c.58269T>C (TTN)	XP_024308865.1:p.Leu19423=
XM_024453098.1:c.58188T>C (TTN)	XP_024308866.1:p.Leu19396=
XM_024453099.1:c.39951T>C (TTN)	XP_024308867.1:p.Leu13317=
XM_024453100.1:c.29805T>C (TTN)	XP_024308868.1:p.Leu9935=