Canonical Allele Identifier: CA430235079

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2031231
• ClinVar RCV Id: RCV002898788
• dbSNP Id: rs1279473300
• gnomAD v2: 2-179395016-C-T
• gnomAD v3: 2-178530289-C-T
• gnomAD v4: 2-178530289-C-T
• MyVariant Identifiers: chr2:g.179395016C>T (hg19) ; chr2:g.178530289C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530289C>T , CM000664.2:g.178530289C>T	GRCh38
NC_000002.11:g.179395016C>T , CM000664.1:g.179395016C>T	GRCh37
NC_000002.10:g.179103262C>T	NCBI36
NG_011618.3:g.305514G>A , LRG_391:g.305514G>A
NG_051363.1:g.12463C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98622G>A (TTN)	ENSP00000343764.6:p.Lys32874=
ENST00000342175.11:c.79707G>A (TTN)	ENSP00000340554.6:p.Lys26569=
ENST00000359218.10:c.79506G>A (TTN)	ENSP00000352154.5:p.Lys26502=
ENST00000342175.10:c.79707G>A (TTN)	ENSP00000340554.6:p.Lys26569=
ENST00000342992.10:c.98622G>A (TTN)	ENSP00000343764.6:p.Lys32874=
ENST00000359218.9:c.79506G>A (TTN)	ENSP00000352154.5:p.Lys26502=
ENST00000460472.6:c.79131G>A (TTN)	ENSP00000434586.1:p.Lys26377=
ENST00000589042.5:c.106326G>A (TTN) MANE Select	ENSP00000467141.1:p.Lys35442=
ENST00000591111.5:c.101403G>A (TTN)	ENSP00000465570.1:p.Lys33801=
ENST00000615779.4:c.101403G>A (TTN)	ENSP00000483597.1:p.Lys33801=
NM_001256850.1:c.101403G>A (TTN)	NP_001243779.1:p.Lys33801=
NM_001267550.2:c.106326G>A (TTN) MANE Select	NP_001254479.2:p.Lys35442=
NM_003319.4:c.79131G>A (TTN)	NP_003310.4:p.Lys26377=
NM_133378.4:c.98622G>A (TTN)	NP_596869.4:p.Lys32874=
NM_133432.3:c.79506G>A (TTN)	NP_597676.3:p.Lys26502=
NM_133437.4:c.79707G>A (TTN)	NP_597681.4:p.Lys26569=
NR_038271.1:n.446+6653C>T (TTN-AS1)
NR_038272.1:n.220-5443C>T (TTN-AS1)
XM_011511729.1:c.105423G>A (TTN)	XP_011510031.1:p.Lys35141=
XM_011511730.1:c.79317G>A (TTN)	XP_011510032.1:p.Lys26439=
XM_011511731.1:c.79176G>A (TTN)	XP_011510033.1:p.Lys26392=
XM_017004819.1:c.105219G>A (TTN)	XP_016860308.1:p.Lys35073=
XM_017004820.1:c.100617G>A (TTN)	XP_016860309.1:p.Lys33539=
XM_017004821.1:c.100614G>A (TTN)	XP_016860310.1:p.Lys33538=
XM_017004822.1:c.97656G>A (TTN)	XP_016860311.1:p.Lys32552=
XM_017004823.1:c.79272G>A (TTN)	XP_016860312.1:p.Lys26424=
XM_024453094.1:c.100767G>A (TTN)	XP_024308862.1:p.Lys33589=
XM_024453095.1:c.100764G>A (TTN)	XP_024308863.1:p.Lys33588=
XM_024453096.1:c.100197G>A (TTN)	XP_024308864.1:p.Lys33399=
XM_024453097.1:c.97539G>A (TTN)	XP_024308865.1:p.Lys32513=
XM_024453098.1:c.97458G>A (TTN)	XP_024308866.1:p.Lys32486=
XM_024453099.1:c.79221G>A (TTN)	XP_024308867.1:p.Lys26407=
XM_024453100.1:c.69075G>A (TTN)	XP_024308868.1:p.Lys23025=