Canonical Allele Identifier: CA10611666

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332839
• ClinVar RCV Id: RCV000265123 ; RCV000287580 ; RCV000322690 ; RCV000379601 ; RCV000383202 ; RCV002057621
• dbSNP Id: rs373140387
• gnomAD v4: 2-178607588-A-G
• MyVariant Identifiers: chr2:g.179472315A>G (hg19) ; chr2:g.178607588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178607588A>G , CM000664.2:g.178607588A>G	GRCh38
NC_000002.11:g.179472315A>G , CM000664.1:g.179472315A>G	GRCh37
NC_000002.10:g.179180560A>G	NCBI36
NG_011618.3:g.228215T>C , LRG_391:g.228215T>C
NG_051363.1:g.89762A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.45396T>C (TTN)	ENSP00000343764.6:p.Pro15132=
ENST00000342175.11:c.26481T>C (TTN)	ENSP00000340554.6:p.Pro8827=
ENST00000359218.10:c.26280T>C (TTN)	ENSP00000352154.5:p.Pro8760=
ENST00000342175.10:c.26481T>C (TTN)	ENSP00000340554.6:p.Pro8827=
ENST00000342992.10:c.45396T>C (TTN)	ENSP00000343764.6:p.Pro15132=
ENST00000359218.9:c.26280T>C (TTN)	ENSP00000352154.5:p.Pro8760=
ENST00000460472.6:c.25905T>C (TTN)	ENSP00000434586.1:p.Pro8635=
ENST00000589042.5:c.53100T>C (TTN) MANE Select	ENSP00000467141.1:p.Pro17700=
ENST00000591111.5:c.48177T>C (TTN)	ENSP00000465570.1:p.Pro16059=
ENST00000615779.4:c.48177T>C (TTN)	ENSP00000483597.1:p.Pro16059=
NM_001256850.1:c.48177T>C (TTN)	NP_001243779.1:p.Pro16059=
NM_001267550.2:c.53100T>C (TTN) MANE Select	NP_001254479.2:p.Pro17700=
NM_003319.4:c.25905T>C (TTN)	NP_003310.4:p.Pro8635=
NM_133378.4:c.45396T>C (TTN)	NP_596869.4:p.Pro15132=
NM_133432.3:c.26280T>C (TTN)	NP_597676.3:p.Pro8760=
NM_133437.4:c.26481T>C (TTN)	NP_597681.4:p.Pro8827=
NR_038271.1:n.683-579A>G (TTN-AS1)
XM_011511729.1:c.52197T>C (TTN)	XP_011510031.1:p.Pro17399=
XM_011511730.1:c.26091T>C (TTN)	XP_011510032.1:p.Pro8697=
XM_011511731.1:c.25950T>C (TTN)	XP_011510033.1:p.Pro8650=
XM_017004819.1:c.51993T>C (TTN)	XP_016860308.1:p.Pro17331=
XM_017004820.1:c.47391T>C (TTN)	XP_016860309.1:p.Pro15797=
XM_017004821.1:c.47388T>C (TTN)	XP_016860310.1:p.Pro15796=
XM_017004822.1:c.44430T>C (TTN)	XP_016860311.1:p.Pro14810=
XM_017004823.1:c.26046T>C (TTN)	XP_016860312.1:p.Pro8682=
XM_024453094.1:c.47541T>C (TTN)	XP_024308862.1:p.Pro15847=
XM_024453095.1:c.47538T>C (TTN)	XP_024308863.1:p.Pro15846=
XM_024453096.1:c.46971T>C (TTN)	XP_024308864.1:p.Pro15657=
XM_024453097.1:c.44313T>C (TTN)	XP_024308865.1:p.Pro14771=
XM_024453098.1:c.44232T>C (TTN)	XP_024308866.1:p.Pro14744=
XM_024453099.1:c.25995T>C (TTN)	XP_024308867.1:p.Pro8665=
XM_024453100.1:c.15849T>C (TTN)	XP_024308868.1:p.Pro5283=