Canonical Allele Identifier: CA430104778

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 497814
• ClinVar RCV Id: RCV000598357 ; RCV001860163
• dbSNP Id: rs1553619783
• gnomAD v4: 2-178578612-T-C
• MyVariant Identifiers: chr2:g.179443339T>C (hg19) ; chr2:g.178578612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578612T>C , CM000664.2:g.178578612T>C	GRCh38
NC_000002.11:g.179443339T>C , CM000664.1:g.179443339T>C	GRCh37
NC_000002.10:g.179151585T>C	NCBI36
NG_011618.3:g.257191A>G , LRG_391:g.257191A>G
NG_051363.1:g.60786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60624A>G (TTN)	ENSP00000343764.6:p.Thr20208=
ENST00000342175.11:c.41709A>G (TTN)	ENSP00000340554.6:p.Thr13903=
ENST00000359218.10:c.41508A>G (TTN)	ENSP00000352154.5:p.Thr13836=
ENST00000342175.10:c.41709A>G (TTN)	ENSP00000340554.6:p.Thr13903=
ENST00000342992.10:c.60624A>G (TTN)	ENSP00000343764.6:p.Thr20208=
ENST00000359218.9:c.41508A>G (TTN)	ENSP00000352154.5:p.Thr13836=
ENST00000460472.6:c.41133A>G (TTN)	ENSP00000434586.1:p.Thr13711=
ENST00000589042.5:c.68328A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr22776=
ENST00000591111.5:c.63405A>G (TTN)	ENSP00000465570.1:p.Thr21135=
ENST00000615779.4:c.63405A>G (TTN)	ENSP00000483597.1:p.Thr21135=
NM_001256850.1:c.63405A>G (TTN)	NP_001243779.1:p.Thr21135=
NM_001267550.2:c.68328A>G (TTN) MANE Select	NP_001254479.2:p.Thr22776=
NM_003319.4:c.41133A>G (TTN)	NP_003310.4:p.Thr13711=
NM_133378.4:c.60624A>G (TTN)	NP_596869.4:p.Thr20208=
NM_133432.3:c.41508A>G (TTN)	NP_597676.3:p.Thr13836=
NM_133437.4:c.41709A>G (TTN)	NP_597681.4:p.Thr13903=
NR_038271.1:n.596+7163T>C (TTN-AS1)
NR_038272.1:n.2044-3960T>C (TTN-AS1)
XM_011511729.1:c.67425A>G (TTN)	XP_011510031.1:p.Thr22475=
XM_011511730.1:c.41319A>G (TTN)	XP_011510032.1:p.Thr13773=
XM_011511731.1:c.41178A>G (TTN)	XP_011510033.1:p.Thr13726=
XM_017004819.1:c.67221A>G (TTN)	XP_016860308.1:p.Thr22407=
XM_017004820.1:c.62619A>G (TTN)	XP_016860309.1:p.Thr20873=
XM_017004821.1:c.62616A>G (TTN)	XP_016860310.1:p.Thr20872=
XM_017004822.1:c.59658A>G (TTN)	XP_016860311.1:p.Thr19886=
XM_017004823.1:c.41274A>G (TTN)	XP_016860312.1:p.Thr13758=
XM_024453094.1:c.62769A>G (TTN)	XP_024308862.1:p.Thr20923=
XM_024453095.1:c.62766A>G (TTN)	XP_024308863.1:p.Thr20922=
XM_024453096.1:c.62199A>G (TTN)	XP_024308864.1:p.Thr20733=
XM_024453097.1:c.59541A>G (TTN)	XP_024308865.1:p.Thr19847=
XM_024453098.1:c.59460A>G (TTN)	XP_024308866.1:p.Thr19820=
XM_024453099.1:c.41223A>G (TTN)	XP_024308867.1:p.Thr13741=
XM_024453100.1:c.31077A>G (TTN)	XP_024308868.1:p.Thr10359=