Canonical Allele Identifier: CA1991296

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 290342
• ClinVar RCV Id: RCV000287631
• dbSNP Id: rs763377678
• ExAC: 2:179444402 A / T
• gnomAD v2: 2-179444402-A-T
• gnomAD v3: 2-178579675-A-T
• gnomAD v4: 2-178579675-A-T
• MyVariant Identifiers: chr2:g.179444402A>T (hg19) ; chr2:g.178579675A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579675A>T , CM000664.2:g.178579675A>T	GRCh38
NC_000002.11:g.179444402A>T , CM000664.1:g.179444402A>T	GRCh37
NC_000002.10:g.179152648A>T	NCBI36
NG_011618.3:g.256128T>A , LRG_391:g.256128T>A
NG_051363.1:g.61849A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59818T>A (TTN)	ENSP00000343764.6:p.Tyr19940Asn
ENST00000342175.11:c.40903T>A (TTN)	ENSP00000340554.6:p.Tyr13635Asn
ENST00000359218.10:c.40702T>A (TTN)	ENSP00000352154.5:p.Tyr13568Asn
ENST00000342175.10:c.40903T>A (TTN)	ENSP00000340554.6:p.Tyr13635Asn
ENST00000342992.10:c.59818T>A (TTN)	ENSP00000343764.6:p.Tyr19940Asn
ENST00000359218.9:c.40702T>A (TTN)	ENSP00000352154.5:p.Tyr13568Asn
ENST00000460472.6:c.40327T>A (TTN)	ENSP00000434586.1:p.Tyr13443Asn
ENST00000589042.5:c.67522T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr22508Asn
ENST00000591111.5:c.62599T>A (TTN)	ENSP00000465570.1:p.Tyr20867Asn
ENST00000615779.4:c.62599T>A (TTN)	ENSP00000483597.1:p.Tyr20867Asn
NM_001256850.1:c.62599T>A (TTN)	NP_001243779.1:p.Tyr20867Asn
NM_001267550.2:c.67522T>A (TTN) MANE Select	NP_001254479.2:p.Tyr22508Asn
NM_003319.4:c.40327T>A (TTN)	NP_003310.4:p.Tyr13443Asn
NM_133378.4:c.59818T>A (TTN)	NP_596869.4:p.Tyr19940Asn
NM_133432.3:c.40702T>A (TTN)	NP_597676.3:p.Tyr13568Asn
NM_133437.4:c.40903T>A (TTN)	NP_597681.4:p.Tyr13635Asn
NR_038271.1:n.596+8226A>T (TTN-AS1)
NR_038272.1:n.2044-2897A>T (TTN-AS1)
XM_011511729.1:c.66619T>A (TTN)	XP_011510031.1:p.Tyr22207Asn
XM_011511730.1:c.40513T>A (TTN)	XP_011510032.1:p.Tyr13505Asn
XM_011511731.1:c.40372T>A (TTN)	XP_011510033.1:p.Tyr13458Asn
XM_017004819.1:c.66415T>A (TTN)	XP_016860308.1:p.Tyr22139Asn
XM_017004820.1:c.61813T>A (TTN)	XP_016860309.1:p.Tyr20605Asn
XM_017004821.1:c.61810T>A (TTN)	XP_016860310.1:p.Tyr20604Asn
XM_017004822.1:c.58852T>A (TTN)	XP_016860311.1:p.Tyr19618Asn
XM_017004823.1:c.40468T>A (TTN)	XP_016860312.1:p.Tyr13490Asn
XM_024453094.1:c.61963T>A (TTN)	XP_024308862.1:p.Tyr20655Asn
XM_024453095.1:c.61960T>A (TTN)	XP_024308863.1:p.Tyr20654Asn
XM_024453096.1:c.61393T>A (TTN)	XP_024308864.1:p.Tyr20465Asn
XM_024453097.1:c.58735T>A (TTN)	XP_024308865.1:p.Tyr19579Asn
XM_024453098.1:c.58654T>A (TTN)	XP_024308866.1:p.Tyr19552Asn
XM_024453099.1:c.40417T>A (TTN)	XP_024308867.1:p.Tyr13473Asn
XM_024453100.1:c.30271T>A (TTN)	XP_024308868.1:p.Tyr10091Asn