Canonical Allele Identifier: CA430235247

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1615528
• ClinVar RCV Id: RCV002081533
• dbSNP Id: rs1688566947
• gnomAD v3: 2-178530376-A-G
• gnomAD v4: 2-178530376-A-G
• MyVariant Identifiers: chr2:g.179395103A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530376A>G , CM000664.2:g.178530376A>G	GRCh38
NC_000002.11:g.179395103A>G , CM000664.1:g.179395103A>G	GRCh37
NC_000002.10:g.179103349A>G	NCBI36
NG_011618.3:g.305427T>C , LRG_391:g.305427T>C
NG_051363.1:g.12550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98535T>C (TTN)	ENSP00000343764.6:p.Pro32845=
ENST00000342175.11:c.79620T>C (TTN)	ENSP00000340554.6:p.Pro26540=
ENST00000359218.10:c.79419T>C (TTN)	ENSP00000352154.5:p.Pro26473=
ENST00000342175.10:c.79620T>C (TTN)	ENSP00000340554.6:p.Pro26540=
ENST00000342992.10:c.98535T>C (TTN)	ENSP00000343764.6:p.Pro32845=
ENST00000359218.9:c.79419T>C (TTN)	ENSP00000352154.5:p.Pro26473=
ENST00000460472.6:c.79044T>C (TTN)	ENSP00000434586.1:p.Pro26348=
ENST00000589042.5:c.106239T>C (TTN) MANE Select	ENSP00000467141.1:p.Pro35413=
ENST00000591111.5:c.101316T>C (TTN)	ENSP00000465570.1:p.Pro33772=
ENST00000615779.4:c.101316T>C (TTN)	ENSP00000483597.1:p.Pro33772=
NM_001256850.1:c.101316T>C (TTN)	NP_001243779.1:p.Pro33772=
NM_001267550.2:c.106239T>C (TTN) MANE Select	NP_001254479.2:p.Pro35413=
NM_003319.4:c.79044T>C (TTN)	NP_003310.4:p.Pro26348=
NM_133378.4:c.98535T>C (TTN)	NP_596869.4:p.Pro32845=
NM_133432.3:c.79419T>C (TTN)	NP_597676.3:p.Pro26473=
NM_133437.4:c.79620T>C (TTN)	NP_597681.4:p.Pro26540=
NR_038271.1:n.446+6740A>G (TTN-AS1)
NR_038272.1:n.220-5356A>G (TTN-AS1)
XM_011511729.1:c.105336T>C (TTN)	XP_011510031.1:p.Pro35112=
XM_011511730.1:c.79230T>C (TTN)	XP_011510032.1:p.Pro26410=
XM_011511731.1:c.79089T>C (TTN)	XP_011510033.1:p.Pro26363=
XM_017004819.1:c.105132T>C (TTN)	XP_016860308.1:p.Pro35044=
XM_017004820.1:c.100530T>C (TTN)	XP_016860309.1:p.Pro33510=
XM_017004821.1:c.100527T>C (TTN)	XP_016860310.1:p.Pro33509=
XM_017004822.1:c.97569T>C (TTN)	XP_016860311.1:p.Pro32523=
XM_017004823.1:c.79185T>C (TTN)	XP_016860312.1:p.Pro26395=
XM_024453094.1:c.100680T>C (TTN)	XP_024308862.1:p.Pro33560=
XM_024453095.1:c.100677T>C (TTN)	XP_024308863.1:p.Pro33559=
XM_024453096.1:c.100110T>C (TTN)	XP_024308864.1:p.Pro33370=
XM_024453097.1:c.97452T>C (TTN)	XP_024308865.1:p.Pro32484=
XM_024453098.1:c.97371T>C (TTN)	XP_024308866.1:p.Pro32457=
XM_024453099.1:c.79134T>C (TTN)	XP_024308867.1:p.Pro26378=
XM_024453100.1:c.68988T>C (TTN)	XP_024308868.1:p.Pro22996=