Canonical Allele Identifier: CA1987940

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 229539
• ClinVar RCV Id: RCV000215758 ; RCV001589138
• dbSNP Id: rs753966916
• ExAC: 2:179418375 G / A
• gnomAD v2: 2-179418375-G-A
• gnomAD v3: 2-178553648-G-A
• gnomAD v4: 2-178553648-G-A
• MyVariant Identifiers: chr2:g.179418375G>A (hg19) ; chr2:g.178553648G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553648G>A , CM000664.2:g.178553648G>A	GRCh38
NC_000002.11:g.179418375G>A , CM000664.1:g.179418375G>A	GRCh37
NC_000002.10:g.179126621G>A	NCBI36
NG_011618.3:g.282155C>T , LRG_391:g.282155C>T
NG_051363.1:g.35822G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.81653C>T (TTN)	ENSP00000343764.6:p.Thr27218Ile
ENST00000342175.11:c.62738C>T (TTN)	ENSP00000340554.6:p.Thr20913Ile
ENST00000359218.10:c.62537C>T (TTN)	ENSP00000352154.5:p.Thr20846Ile
ENST00000342175.10:c.62738C>T (TTN)	ENSP00000340554.6:p.Thr20913Ile
ENST00000342992.10:c.81653C>T (TTN)	ENSP00000343764.6:p.Thr27218Ile
ENST00000359218.9:c.62537C>T (TTN)	ENSP00000352154.5:p.Thr20846Ile
ENST00000460472.6:c.62162C>T (TTN)	ENSP00000434586.1:p.Thr20721Ile
ENST00000589042.5:c.89357C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr29786Ile
ENST00000591111.5:c.84434C>T (TTN)	ENSP00000465570.1:p.Thr28145Ile
ENST00000615779.4:c.84434C>T (TTN)	ENSP00000483597.1:p.Thr28145Ile
NM_001256850.1:c.84434C>T (TTN)	NP_001243779.1:p.Thr28145Ile
NM_001267550.2:c.89357C>T (TTN) MANE Select	NP_001254479.2:p.Thr29786Ile
NM_003319.4:c.62162C>T (TTN)	NP_003310.4:p.Thr20721Ile
NM_133378.4:c.81653C>T (TTN)	NP_596869.4:p.Thr27218Ile
NM_133432.3:c.62537C>T (TTN)	NP_597676.3:p.Thr20846Ile
NM_133437.4:c.62738C>T (TTN)	NP_597681.4:p.Thr20913Ile
NR_038271.1:n.447-17652G>A (TTN-AS1)
NR_038272.1:n.2043+11287G>A (TTN-AS1)
XM_011511729.1:c.88454C>T (TTN)	XP_011510031.1:p.Thr29485Ile
XM_011511730.1:c.62348C>T (TTN)	XP_011510032.1:p.Thr20783Ile
XM_011511731.1:c.62207C>T (TTN)	XP_011510033.1:p.Thr20736Ile
XM_017004819.1:c.88250C>T (TTN)	XP_016860308.1:p.Thr29417Ile
XM_017004820.1:c.83648C>T (TTN)	XP_016860309.1:p.Thr27883Ile
XM_017004821.1:c.83645C>T (TTN)	XP_016860310.1:p.Thr27882Ile
XM_017004822.1:c.80687C>T (TTN)	XP_016860311.1:p.Thr26896Ile
XM_017004823.1:c.62303C>T (TTN)	XP_016860312.1:p.Thr20768Ile
XM_024453094.1:c.83798C>T (TTN)	XP_024308862.1:p.Thr27933Ile
XM_024453095.1:c.83795C>T (TTN)	XP_024308863.1:p.Thr27932Ile
XM_024453096.1:c.83228C>T (TTN)	XP_024308864.1:p.Thr27743Ile
XM_024453097.1:c.80570C>T (TTN)	XP_024308865.1:p.Thr26857Ile
XM_024453098.1:c.80489C>T (TTN)	XP_024308866.1:p.Thr26830Ile
XM_024453099.1:c.62252C>T (TTN)	XP_024308867.1:p.Thr20751Ile
XM_024453100.1:c.52106C>T (TTN)	XP_024308868.1:p.Thr17369Ile