Canonical Allele Identifier: CA10611616

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332767
• ClinVar RCV Id: RCV000262505 ; RCV000265841 ; RCV000317678 ; RCV000372563 ; RCV000375943
• dbSNP Id: rs886055243
• gnomAD v4: 2-178565648-G-C
• MyVariant Identifiers: chr2:g.179430375G>C (hg19) ; chr2:g.178565648G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565648G>C , CM000664.2:g.178565648G>C	GRCh38
NC_000002.11:g.179430375G>C , CM000664.1:g.179430375G>C	GRCh37
NC_000002.10:g.179138621G>C	NCBI36
NG_011618.3:g.270155C>G , LRG_391:g.270155C>G
NG_051363.1:g.47822G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.72780C>G (TTN)	ENSP00000343764.6:p.Ser24260Arg
ENST00000342175.11:c.53865C>G (TTN)	ENSP00000340554.6:p.Ser17955Arg
ENST00000359218.10:c.53664C>G (TTN)	ENSP00000352154.5:p.Ser17888Arg
ENST00000342175.10:c.53865C>G (TTN)	ENSP00000340554.6:p.Ser17955Arg
ENST00000342992.10:c.72780C>G (TTN)	ENSP00000343764.6:p.Ser24260Arg
ENST00000359218.9:c.53664C>G (TTN)	ENSP00000352154.5:p.Ser17888Arg
ENST00000460472.6:c.53289C>G (TTN)	ENSP00000434586.1:p.Ser17763Arg
ENST00000589042.5:c.80484C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser26828Arg
ENST00000591111.5:c.75561C>G (TTN)	ENSP00000465570.1:p.Ser25187Arg
ENST00000615779.4:c.75561C>G (TTN)	ENSP00000483597.1:p.Ser25187Arg
NM_001256850.1:c.75561C>G (TTN)	NP_001243779.1:p.Ser25187Arg
NM_001267550.2:c.80484C>G (TTN) MANE Select	NP_001254479.2:p.Ser26828Arg
NM_003319.4:c.53289C>G (TTN)	NP_003310.4:p.Ser17763Arg
NM_133378.4:c.72780C>G (TTN)	NP_596869.4:p.Ser24260Arg
NM_133432.3:c.53664C>G (TTN)	NP_597676.3:p.Ser17888Arg
NM_133437.4:c.53865C>G (TTN)	NP_597681.4:p.Ser17955Arg
NR_038271.1:n.447-5652G>C (TTN-AS1)
NR_038272.1:n.2044-16924G>C (TTN-AS1)
XM_011511729.1:c.79581C>G (TTN)	XP_011510031.1:p.Ser26527Arg
XM_011511730.1:c.53475C>G (TTN)	XP_011510032.1:p.Ser17825Arg
XM_011511731.1:c.53334C>G (TTN)	XP_011510033.1:p.Ser17778Arg
XM_017004819.1:c.79377C>G (TTN)	XP_016860308.1:p.Ser26459Arg
XM_017004820.1:c.74775C>G (TTN)	XP_016860309.1:p.Ser24925Arg
XM_017004821.1:c.74772C>G (TTN)	XP_016860310.1:p.Ser24924Arg
XM_017004822.1:c.71814C>G (TTN)	XP_016860311.1:p.Ser23938Arg
XM_017004823.1:c.53430C>G (TTN)	XP_016860312.1:p.Ser17810Arg
XM_024453094.1:c.74925C>G (TTN)	XP_024308862.1:p.Ser24975Arg
XM_024453095.1:c.74922C>G (TTN)	XP_024308863.1:p.Ser24974Arg
XM_024453096.1:c.74355C>G (TTN)	XP_024308864.1:p.Ser24785Arg
XM_024453097.1:c.71697C>G (TTN)	XP_024308865.1:p.Ser23899Arg
XM_024453098.1:c.71616C>G (TTN)	XP_024308866.1:p.Ser23872Arg
XM_024453099.1:c.53379C>G (TTN)	XP_024308867.1:p.Ser17793Arg
XM_024453100.1:c.43233C>G (TTN)	XP_024308868.1:p.Ser14411Arg