Canonical Allele Identifier: CA349406604

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2690290
• ClinVar RCV Id: RCV003491706
• dbSNP Id: rs1238858589
• gnomAD v2: 2-179395134-G-A
• gnomAD v4: 2-178530407-G-A
• MyVariant Identifiers: chr2:g.179395134G>A (hg19) ; chr2:g.178530407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530407G>A , CM000664.2:g.178530407G>A	GRCh38
NC_000002.11:g.179395134G>A , CM000664.1:g.179395134G>A	GRCh37
NC_000002.10:g.179103380G>A	NCBI36
NG_011618.3:g.305396C>T , LRG_391:g.305396C>T
NG_051363.1:g.12581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98504C>T (TTN)	ENSP00000343764.6:p.Thr32835Ile
ENST00000342175.11:c.79589C>T (TTN)	ENSP00000340554.6:p.Thr26530Ile
ENST00000359218.10:c.79388C>T (TTN)	ENSP00000352154.5:p.Thr26463Ile
ENST00000342175.10:c.79589C>T (TTN)	ENSP00000340554.6:p.Thr26530Ile
ENST00000342992.10:c.98504C>T (TTN)	ENSP00000343764.6:p.Thr32835Ile
ENST00000359218.9:c.79388C>T (TTN)	ENSP00000352154.5:p.Thr26463Ile
ENST00000460472.6:c.79013C>T (TTN)	ENSP00000434586.1:p.Thr26338Ile
ENST00000589042.5:c.106208C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35403Ile
ENST00000591111.5:c.101285C>T (TTN)	ENSP00000465570.1:p.Thr33762Ile
ENST00000615779.4:c.101285C>T (TTN)	ENSP00000483597.1:p.Thr33762Ile
NM_001256850.1:c.101285C>T (TTN)	NP_001243779.1:p.Thr33762Ile
NM_001267550.2:c.106208C>T (TTN) MANE Select	NP_001254479.2:p.Thr35403Ile
NM_003319.4:c.79013C>T (TTN)	NP_003310.4:p.Thr26338Ile
NM_133378.4:c.98504C>T (TTN)	NP_596869.4:p.Thr32835Ile
NM_133432.3:c.79388C>T (TTN)	NP_597676.3:p.Thr26463Ile
NM_133437.4:c.79589C>T (TTN)	NP_597681.4:p.Thr26530Ile
NR_038271.1:n.446+6771G>A (TTN-AS1)
NR_038272.1:n.220-5325G>A (TTN-AS1)
XM_011511729.1:c.105305C>T (TTN)	XP_011510031.1:p.Thr35102Ile
XM_011511730.1:c.79199C>T (TTN)	XP_011510032.1:p.Thr26400Ile
XM_011511731.1:c.79058C>T (TTN)	XP_011510033.1:p.Thr26353Ile
XM_017004819.1:c.105101C>T (TTN)	XP_016860308.1:p.Thr35034Ile
XM_017004820.1:c.100499C>T (TTN)	XP_016860309.1:p.Thr33500Ile
XM_017004821.1:c.100496C>T (TTN)	XP_016860310.1:p.Thr33499Ile
XM_017004822.1:c.97538C>T (TTN)	XP_016860311.1:p.Thr32513Ile
XM_017004823.1:c.79154C>T (TTN)	XP_016860312.1:p.Thr26385Ile
XM_024453094.1:c.100649C>T (TTN)	XP_024308862.1:p.Thr33550Ile
XM_024453095.1:c.100646C>T (TTN)	XP_024308863.1:p.Thr33549Ile
XM_024453096.1:c.100079C>T (TTN)	XP_024308864.1:p.Thr33360Ile
XM_024453097.1:c.97421C>T (TTN)	XP_024308865.1:p.Thr32474Ile
XM_024453098.1:c.97340C>T (TTN)	XP_024308866.1:p.Thr32447Ile
XM_024453099.1:c.79103C>T (TTN)	XP_024308867.1:p.Thr26368Ile
XM_024453100.1:c.68957C>T (TTN)	XP_024308868.1:p.Thr22986Ile