Canonical Allele Identifier: CA10603837

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 281302
• ClinVar RCV Id: RCV000290181 ; RCV002487182 ; RCV003765586
• dbSNP Id: rs886042123
• gnomAD v4: 2-178593177-T-C
• MyVariant Identifiers: chr2:g.179457904T>C (hg19) ; chr2:g.178593177T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593177T>C , CM000664.2:g.178593177T>C	GRCh38
NC_000002.11:g.179457904T>C , CM000664.1:g.179457904T>C	GRCh37
NC_000002.10:g.179166150T>C	NCBI36
NG_011618.3:g.242626A>G , LRG_391:g.242626A>G
NG_051363.1:g.75351T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51327A>G (TTN)	ENSP00000343764.6:p.Pro17109=
ENST00000342175.11:c.32412A>G (TTN)	ENSP00000340554.6:p.Pro10804=
ENST00000359218.10:c.32211A>G (TTN)	ENSP00000352154.5:p.Pro10737=
ENST00000342175.10:c.32412A>G (TTN)	ENSP00000340554.6:p.Pro10804=
ENST00000342992.10:c.51327A>G (TTN)	ENSP00000343764.6:p.Pro17109=
ENST00000359218.9:c.32211A>G (TTN)	ENSP00000352154.5:p.Pro10737=
ENST00000460472.6:c.31836A>G (TTN)	ENSP00000434586.1:p.Pro10612=
ENST00000589042.5:c.59031A>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19677=
ENST00000591111.5:c.54108A>G (TTN)	ENSP00000465570.1:p.Pro18036=
ENST00000615779.4:c.54108A>G (TTN)	ENSP00000483597.1:p.Pro18036=
NM_001256850.1:c.54108A>G (TTN)	NP_001243779.1:p.Pro18036=
NM_001267550.2:c.59031A>G (TTN) MANE Select	NP_001254479.2:p.Pro19677=
NM_003319.4:c.31836A>G (TTN)	NP_003310.4:p.Pro10612=
NM_133378.4:c.51327A>G (TTN)	NP_596869.4:p.Pro17109=
NM_133432.3:c.32211A>G (TTN)	NP_597676.3:p.Pro10737=
NM_133437.4:c.32412A>G (TTN)	NP_597681.4:p.Pro10804=
NR_038271.1:n.597-4419T>C (TTN-AS1)
NR_038272.1:n.3364+1863T>C (TTN-AS1)
XM_011511729.1:c.58128A>G (TTN)	XP_011510031.1:p.Pro19376=
XM_011511730.1:c.32022A>G (TTN)	XP_011510032.1:p.Pro10674=
XM_011511731.1:c.31881A>G (TTN)	XP_011510033.1:p.Pro10627=
XM_017004819.1:c.57924A>G (TTN)	XP_016860308.1:p.Pro19308=
XM_017004820.1:c.53322A>G (TTN)	XP_016860309.1:p.Pro17774=
XM_017004821.1:c.53319A>G (TTN)	XP_016860310.1:p.Pro17773=
XM_017004822.1:c.50361A>G (TTN)	XP_016860311.1:p.Pro16787=
XM_017004823.1:c.31977A>G (TTN)	XP_016860312.1:p.Pro10659=
XM_024453094.1:c.53472A>G (TTN)	XP_024308862.1:p.Pro17824=
XM_024453095.1:c.53469A>G (TTN)	XP_024308863.1:p.Pro17823=
XM_024453096.1:c.52902A>G (TTN)	XP_024308864.1:p.Pro17634=
XM_024453097.1:c.50244A>G (TTN)	XP_024308865.1:p.Pro16748=
XM_024453098.1:c.50163A>G (TTN)	XP_024308866.1:p.Pro16721=
XM_024453099.1:c.31926A>G (TTN)	XP_024308867.1:p.Pro10642=
XM_024453100.1:c.21780A>G (TTN)	XP_024308868.1:p.Pro7260=