Canonical Allele Identifier: CA1985427

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2932368
• ClinVar RCV Id: RCV003795582
• dbSNP Id: rs764562534
• ExAC: 2:179396904 G / T
• gnomAD v2: 2-179396904-G-T
• MyVariant Identifiers: chr2:g.179396904G>T (hg19) ; chr2:g.178532177G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532177G>T , CM000664.2:g.178532177G>T	GRCh38
NC_000002.11:g.179396904G>T , CM000664.1:g.179396904G>T	GRCh37
NC_000002.10:g.179105150G>T	NCBI36
NG_011618.3:g.303626C>A , LRG_391:g.303626C>A
NG_051363.1:g.14351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96734C>A (TTN)	ENSP00000343764.6:p.Thr32245Lys
ENST00000342175.11:c.77819C>A (TTN)	ENSP00000340554.6:p.Thr25940Lys
ENST00000359218.10:c.77618C>A (TTN)	ENSP00000352154.5:p.Thr25873Lys
ENST00000342175.10:c.77819C>A (TTN)	ENSP00000340554.6:p.Thr25940Lys
ENST00000342992.10:c.96734C>A (TTN)	ENSP00000343764.6:p.Thr32245Lys
ENST00000359218.9:c.77618C>A (TTN)	ENSP00000352154.5:p.Thr25873Lys
ENST00000460472.6:c.77243C>A (TTN)	ENSP00000434586.1:p.Thr25748Lys
ENST00000589042.5:c.104438C>A (TTN) MANE Select	ENSP00000467141.1:p.Thr34813Lys
ENST00000591111.5:c.99515C>A (TTN)	ENSP00000465570.1:p.Thr33172Lys
ENST00000615779.4:c.99515C>A (TTN)	ENSP00000483597.1:p.Thr33172Lys
NM_001256850.1:c.99515C>A (TTN)	NP_001243779.1:p.Thr33172Lys
NM_001267550.2:c.104438C>A (TTN) MANE Select	NP_001254479.2:p.Thr34813Lys
NM_003319.4:c.77243C>A (TTN)	NP_003310.4:p.Thr25748Lys
NM_133378.4:c.96734C>A (TTN)	NP_596869.4:p.Thr32245Lys
NM_133432.3:c.77618C>A (TTN)	NP_597676.3:p.Thr25873Lys
NM_133437.4:c.77819C>A (TTN)	NP_597681.4:p.Thr25940Lys
NR_038271.1:n.446+8541G>T (TTN-AS1)
NR_038272.1:n.220-3555G>T (TTN-AS1)
XM_011511729.1:c.103535C>A (TTN)	XP_011510031.1:p.Thr34512Lys
XM_011511730.1:c.77429C>A (TTN)	XP_011510032.1:p.Thr25810Lys
XM_011511731.1:c.77288C>A (TTN)	XP_011510033.1:p.Thr25763Lys
XM_017004819.1:c.103331C>A (TTN)	XP_016860308.1:p.Thr34444Lys
XM_017004820.1:c.98729C>A (TTN)	XP_016860309.1:p.Thr32910Lys
XM_017004821.1:c.98726C>A (TTN)	XP_016860310.1:p.Thr32909Lys
XM_017004822.1:c.95768C>A (TTN)	XP_016860311.1:p.Thr31923Lys
XM_017004823.1:c.77384C>A (TTN)	XP_016860312.1:p.Thr25795Lys
XM_024453094.1:c.98879C>A (TTN)	XP_024308862.1:p.Thr32960Lys
XM_024453095.1:c.98876C>A (TTN)	XP_024308863.1:p.Thr32959Lys
XM_024453096.1:c.98309C>A (TTN)	XP_024308864.1:p.Thr32770Lys
XM_024453097.1:c.95651C>A (TTN)	XP_024308865.1:p.Thr31884Lys
XM_024453098.1:c.95570C>A (TTN)	XP_024308866.1:p.Thr31857Lys
XM_024453099.1:c.77333C>A (TTN)	XP_024308867.1:p.Thr25778Lys
XM_024453100.1:c.67187C>A (TTN)	XP_024308868.1:p.Thr22396Lys