Canonical Allele Identifier: CA430274473

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1575781
• ClinVar RCV Id: RCV002075391
• dbSNP Id: rs1323015535
• gnomAD v2: 2-179482780-G-A
• gnomAD v4: 2-178618053-G-A
• MyVariant Identifiers: chr2:g.179482780G>A (hg19) ; chr2:g.178618053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618053G>A , CM000664.2:g.178618053G>A	GRCh38
NC_000002.11:g.179482780G>A , CM000664.1:g.179482780G>A	GRCh37
NC_000002.10:g.179191025G>A	NCBI36
NG_011618.3:g.217750C>T , LRG_391:g.217750C>T
NG_051363.1:g.100227G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39594C>T (TTN)	ENSP00000343764.6:p.Thr13198=
ENST00000342175.11:c.20679C>T (TTN)	ENSP00000340554.6:p.Thr6893=
ENST00000359218.10:c.20478C>T (TTN)	ENSP00000352154.5:p.Thr6826=
ENST00000342175.10:c.20679C>T (TTN)	ENSP00000340554.6:p.Thr6893=
ENST00000342992.10:c.39594C>T (TTN)	ENSP00000343764.6:p.Thr13198=
ENST00000359218.9:c.20478C>T (TTN)	ENSP00000352154.5:p.Thr6826=
ENST00000460472.6:c.20103C>T (TTN)	ENSP00000434586.1:p.Thr6701=
ENST00000589042.5:c.47298C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr15766=
ENST00000591111.5:c.42375C>T (TTN)	ENSP00000465570.1:p.Thr14125=
ENST00000615779.4:c.42375C>T (TTN)	ENSP00000483597.1:p.Thr14125=
NM_001256850.1:c.42375C>T (TTN)	NP_001243779.1:p.Thr14125=
NM_001267550.2:c.47298C>T (TTN) MANE Select	NP_001254479.2:p.Thr15766=
NM_003319.4:c.20103C>T (TTN)	NP_003310.4:p.Thr6701=
NM_133378.4:c.39594C>T (TTN)	NP_596869.4:p.Thr13198=
NM_133432.3:c.20478C>T (TTN)	NP_597676.3:p.Thr6826=
NM_133437.4:c.20679C>T (TTN)	NP_597681.4:p.Thr6893=
NR_038271.1:n.1605-1700G>A (TTN-AS1)
XM_011511729.1:c.46395C>T (TTN)	XP_011510031.1:p.Thr15465=
XM_011511730.1:c.20289C>T (TTN)	XP_011510032.1:p.Thr6763=
XM_011511731.1:c.20148C>T (TTN)	XP_011510033.1:p.Thr6716=
XM_017004819.1:c.46191C>T (TTN)	XP_016860308.1:p.Thr15397=
XM_017004820.1:c.41589C>T (TTN)	XP_016860309.1:p.Thr13863=
XM_017004821.1:c.41586C>T (TTN)	XP_016860310.1:p.Thr13862=
XM_017004822.1:c.38628C>T (TTN)	XP_016860311.1:p.Thr12876=
XM_017004823.1:c.20244C>T (TTN)	XP_016860312.1:p.Thr6748=
XM_024453094.1:c.41739C>T (TTN)	XP_024308862.1:p.Thr13913=
XM_024453095.1:c.41736C>T (TTN)	XP_024308863.1:p.Thr13912=
XM_024453096.1:c.41169C>T (TTN)	XP_024308864.1:p.Thr13723=
XM_024453097.1:c.38511C>T (TTN)	XP_024308865.1:p.Thr12837=
XM_024453098.1:c.38430C>T (TTN)	XP_024308866.1:p.Thr12810=
XM_024453099.1:c.20193C>T (TTN)	XP_024308867.1:p.Thr6731=
XM_024453100.1:c.10047C>T (TTN)	XP_024308868.1:p.Thr3349=