Canonical Allele Identifier: CA349411497

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1930408
• ClinVar RCV Id: RCV002645743
• MyVariant Identifiers: chr2:g.179396829C>T (hg19) ; chr2:g.178532102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532102C>T , CM000664.2:g.178532102C>T	GRCh38
NC_000002.11:g.179396829C>T , CM000664.1:g.179396829C>T	GRCh37
NC_000002.10:g.179105075C>T	NCBI36
NG_011618.3:g.303701G>A , LRG_391:g.303701G>A
NG_051363.1:g.14276C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96809G>A (TTN)	ENSP00000343764.6:p.Arg32270Lys
ENST00000342175.11:c.77894G>A (TTN)	ENSP00000340554.6:p.Arg25965Lys
ENST00000359218.10:c.77693G>A (TTN)	ENSP00000352154.5:p.Arg25898Lys
ENST00000342175.10:c.77894G>A (TTN)	ENSP00000340554.6:p.Arg25965Lys
ENST00000342992.10:c.96809G>A (TTN)	ENSP00000343764.6:p.Arg32270Lys
ENST00000359218.9:c.77693G>A (TTN)	ENSP00000352154.5:p.Arg25898Lys
ENST00000460472.6:c.77318G>A (TTN)	ENSP00000434586.1:p.Arg25773Lys
ENST00000589042.5:c.104513G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg34838Lys
ENST00000591111.5:c.99590G>A (TTN)	ENSP00000465570.1:p.Arg33197Lys
ENST00000615779.4:c.99590G>A (TTN)	ENSP00000483597.1:p.Arg33197Lys
NM_001256850.1:c.99590G>A (TTN)	NP_001243779.1:p.Arg33197Lys
NM_001267550.2:c.104513G>A (TTN) MANE Select	NP_001254479.2:p.Arg34838Lys
NM_003319.4:c.77318G>A (TTN)	NP_003310.4:p.Arg25773Lys
NM_133378.4:c.96809G>A (TTN)	NP_596869.4:p.Arg32270Lys
NM_133432.3:c.77693G>A (TTN)	NP_597676.3:p.Arg25898Lys
NM_133437.4:c.77894G>A (TTN)	NP_597681.4:p.Arg25965Lys
NR_038271.1:n.446+8466C>T (TTN-AS1)
NR_038272.1:n.220-3630C>T (TTN-AS1)
XM_011511729.1:c.103610G>A (TTN)	XP_011510031.1:p.Arg34537Lys
XM_011511730.1:c.77504G>A (TTN)	XP_011510032.1:p.Arg25835Lys
XM_011511731.1:c.77363G>A (TTN)	XP_011510033.1:p.Arg25788Lys
XM_017004819.1:c.103406G>A (TTN)	XP_016860308.1:p.Arg34469Lys
XM_017004820.1:c.98804G>A (TTN)	XP_016860309.1:p.Arg32935Lys
XM_017004821.1:c.98801G>A (TTN)	XP_016860310.1:p.Arg32934Lys
XM_017004822.1:c.95843G>A (TTN)	XP_016860311.1:p.Arg31948Lys
XM_017004823.1:c.77459G>A (TTN)	XP_016860312.1:p.Arg25820Lys
XM_024453094.1:c.98954G>A (TTN)	XP_024308862.1:p.Arg32985Lys
XM_024453095.1:c.98951G>A (TTN)	XP_024308863.1:p.Arg32984Lys
XM_024453096.1:c.98384G>A (TTN)	XP_024308864.1:p.Arg32795Lys
XM_024453097.1:c.95726G>A (TTN)	XP_024308865.1:p.Arg31909Lys
XM_024453098.1:c.95645G>A (TTN)	XP_024308866.1:p.Arg31882Lys
XM_024453099.1:c.77408G>A (TTN)	XP_024308867.1:p.Arg25803Lys
XM_024453100.1:c.67262G>A (TTN)	XP_024308868.1:p.Arg22421Lys