Canonical Allele Identifier: CA60972522

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1755250
• ClinVar RCV Id: RCV002369231 ; RCV003322916
• dbSNP Id: rs994448356
• gnomAD v3: 2-178546681-G-A
• gnomAD v4: 2-178546681-G-A
• COSMIC: COSM2896831 ; COSM2896832 ; COSM2896833 ; COSM2896834
• MyVariant Identifiers: chr2:g.179411408G>A (hg19) ; chr2:g.178546681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546681G>A , CM000664.2:g.178546681G>A	GRCh38
NC_000002.11:g.179411408G>A , CM000664.1:g.179411408G>A	GRCh37
NC_000002.10:g.179119654G>A	NCBI36
NG_011618.3:g.289122C>T , LRG_391:g.289122C>T
NG_051363.1:g.28855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87043C>T (TTN)	ENSP00000343764.6:p.Arg29015Cys
ENST00000342175.11:c.68128C>T (TTN)	ENSP00000340554.6:p.Arg22710Cys
ENST00000359218.10:c.67927C>T (TTN)	ENSP00000352154.5:p.Arg22643Cys
ENST00000342175.10:c.68128C>T (TTN)	ENSP00000340554.6:p.Arg22710Cys
ENST00000342992.10:c.87043C>T (TTN)	ENSP00000343764.6:p.Arg29015Cys
ENST00000359218.9:c.67927C>T (TTN)	ENSP00000352154.5:p.Arg22643Cys
ENST00000460472.6:c.67552C>T (TTN)	ENSP00000434586.1:p.Arg22518Cys
ENST00000589042.5:c.94747C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg31583Cys
ENST00000591111.5:c.89824C>T (TTN)	ENSP00000465570.1:p.Arg29942Cys
ENST00000615779.4:c.89824C>T (TTN)	ENSP00000483597.1:p.Arg29942Cys
NM_001256850.1:c.89824C>T (TTN)	NP_001243779.1:p.Arg29942Cys
NM_001267550.2:c.94747C>T (TTN) MANE Select	NP_001254479.2:p.Arg31583Cys
NM_003319.4:c.67552C>T (TTN)	NP_003310.4:p.Arg22518Cys
NM_133378.4:c.87043C>T (TTN)	NP_596869.4:p.Arg29015Cys
NM_133432.3:c.67927C>T (TTN)	NP_597676.3:p.Arg22643Cys
NM_133437.4:c.68128C>T (TTN)	NP_597681.4:p.Arg22710Cys
NR_038271.1:n.446+23045G>A (TTN-AS1)
NR_038272.1:n.2043+4320G>A (TTN-AS1)
XM_011511729.1:c.93844C>T (TTN)	XP_011510031.1:p.Arg31282Cys
XM_011511730.1:c.67738C>T (TTN)	XP_011510032.1:p.Arg22580Cys
XM_011511731.1:c.67597C>T (TTN)	XP_011510033.1:p.Arg22533Cys
XM_017004819.1:c.93640C>T (TTN)	XP_016860308.1:p.Arg31214Cys
XM_017004820.1:c.89038C>T (TTN)	XP_016860309.1:p.Arg29680Cys
XM_017004821.1:c.89035C>T (TTN)	XP_016860310.1:p.Arg29679Cys
XM_017004822.1:c.86077C>T (TTN)	XP_016860311.1:p.Arg28693Cys
XM_017004823.1:c.67693C>T (TTN)	XP_016860312.1:p.Arg22565Cys
XM_024453094.1:c.89188C>T (TTN)	XP_024308862.1:p.Arg29730Cys
XM_024453095.1:c.89185C>T (TTN)	XP_024308863.1:p.Arg29729Cys
XM_024453096.1:c.88618C>T (TTN)	XP_024308864.1:p.Arg29540Cys
XM_024453097.1:c.85960C>T (TTN)	XP_024308865.1:p.Arg28654Cys
XM_024453098.1:c.85879C>T (TTN)	XP_024308866.1:p.Arg28627Cys
XM_024453099.1:c.67642C>T (TTN)	XP_024308867.1:p.Arg22548Cys
XM_024453100.1:c.57496C>T (TTN)	XP_024308868.1:p.Arg19166Cys