Canonical Allele Identifier: CA1994608

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 467214
• ClinVar RCV Id: RCV000530332 ; RCV003330775
• dbSNP Id: rs541307234
• ExAC: 2:179478622 G / T
• gnomAD v2: 2-179478622-G-T
• gnomAD v3: 2-178613895-G-T
• gnomAD v4: 2-178613895-G-T
• MyVariant Identifiers: chr2:g.179478622G>T (hg19) ; chr2:g.178613895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613895G>T , CM000664.2:g.178613895G>T	GRCh38
NC_000002.11:g.179478622G>T , CM000664.1:g.179478622G>T	GRCh37
NC_000002.10:g.179186867G>T	NCBI36
NG_011618.3:g.221908C>A , LRG_391:g.221908C>A
NG_051363.1:g.96069G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41684C>A (TTN)	ENSP00000343764.6:p.Thr13895Asn
ENST00000342175.11:c.22769C>A (TTN)	ENSP00000340554.6:p.Thr7590Asn
ENST00000359218.10:c.22568C>A (TTN)	ENSP00000352154.5:p.Thr7523Asn
ENST00000342175.10:c.22769C>A (TTN)	ENSP00000340554.6:p.Thr7590Asn
ENST00000342992.10:c.41684C>A (TTN)	ENSP00000343764.6:p.Thr13895Asn
ENST00000359218.9:c.22568C>A (TTN)	ENSP00000352154.5:p.Thr7523Asn
ENST00000460472.6:c.22193C>A (TTN)	ENSP00000434586.1:p.Thr7398Asn
ENST00000589042.5:c.49388C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr16463Asn
ENST00000591111.5:c.44465C>A (TTN)	ENSP00000465570.1:p.Thr14822Asn
ENST00000615779.4:c.44465C>A (TTN)	ENSP00000483597.1:p.Thr14822Asn
NM_001256850.1:c.44465C>A (TTN)	NP_001243779.1:p.Thr14822Asn
NM_001267550.2:c.49388C>A (TTN) MANE Select	NP_001254479.2:p.Thr16463Asn
NM_003319.4:c.22193C>A (TTN)	NP_003310.4:p.Thr7398Asn
NM_133378.4:c.41684C>A (TTN)	NP_596869.4:p.Thr13895Asn
NM_133432.3:c.22568C>A (TTN)	NP_597676.3:p.Thr7523Asn
NM_133437.4:c.22769C>A (TTN)	NP_597681.4:p.Thr7590Asn
NR_038271.1:n.783-140G>T (TTN-AS1)
XM_011511729.1:c.48485C>A (TTN)	XP_011510031.1:p.Thr16162Asn
XM_011511730.1:c.22379C>A (TTN)	XP_011510032.1:p.Thr7460Asn
XM_011511731.1:c.22238C>A (TTN)	XP_011510033.1:p.Thr7413Asn
XM_017004819.1:c.48281C>A (TTN)	XP_016860308.1:p.Thr16094Asn
XM_017004820.1:c.43679C>A (TTN)	XP_016860309.1:p.Thr14560Asn
XM_017004821.1:c.43676C>A (TTN)	XP_016860310.1:p.Thr14559Asn
XM_017004822.1:c.40718C>A (TTN)	XP_016860311.1:p.Thr13573Asn
XM_017004823.1:c.22334C>A (TTN)	XP_016860312.1:p.Thr7445Asn
XM_024453094.1:c.43829C>A (TTN)	XP_024308862.1:p.Thr14610Asn
XM_024453095.1:c.43826C>A (TTN)	XP_024308863.1:p.Thr14609Asn
XM_024453096.1:c.43259C>A (TTN)	XP_024308864.1:p.Thr14420Asn
XM_024453097.1:c.40601C>A (TTN)	XP_024308865.1:p.Thr13534Asn
XM_024453098.1:c.40520C>A (TTN)	XP_024308866.1:p.Thr13507Asn
XM_024453099.1:c.22283C>A (TTN)	XP_024308867.1:p.Thr7428Asn
XM_024453100.1:c.12137C>A (TTN)	XP_024308868.1:p.Thr4046Asn