Canonical Allele Identifier: CA1985420

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437861
• ClinVar RCV Id: RCV003137027 ; RCV003150590
• dbSNP Id: rs769150165
• ExAC: 2:179396871 T / C
• gnomAD v2: 2-179396871-T-C
• gnomAD v3: 2-178532144-T-C
• gnomAD v4: 2-178532144-T-C
• MyVariant Identifiers: chr2:g.179396871T>C (hg19) ; chr2:g.178532144T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532144T>C , CM000664.2:g.178532144T>C	GRCh38
NC_000002.11:g.179396871T>C , CM000664.1:g.179396871T>C	GRCh37
NC_000002.10:g.179105117T>C	NCBI36
NG_011618.3:g.303659A>G , LRG_391:g.303659A>G
NG_051363.1:g.14318T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96767A>G (TTN)	ENSP00000343764.6:p.His32256Arg
ENST00000342175.11:c.77852A>G (TTN)	ENSP00000340554.6:p.His25951Arg
ENST00000359218.10:c.77651A>G (TTN)	ENSP00000352154.5:p.His25884Arg
ENST00000342175.10:c.77852A>G (TTN)	ENSP00000340554.6:p.His25951Arg
ENST00000342992.10:c.96767A>G (TTN)	ENSP00000343764.6:p.His32256Arg
ENST00000359218.9:c.77651A>G (TTN)	ENSP00000352154.5:p.His25884Arg
ENST00000460472.6:c.77276A>G (TTN)	ENSP00000434586.1:p.His25759Arg
ENST00000589042.5:c.104471A>G (TTN) MANE Select	ENSP00000467141.1:p.His34824Arg
ENST00000591111.5:c.99548A>G (TTN)	ENSP00000465570.1:p.His33183Arg
ENST00000615779.4:c.99548A>G (TTN)	ENSP00000483597.1:p.His33183Arg
NM_001256850.1:c.99548A>G (TTN)	NP_001243779.1:p.His33183Arg
NM_001267550.2:c.104471A>G (TTN) MANE Select	NP_001254479.2:p.His34824Arg
NM_003319.4:c.77276A>G (TTN)	NP_003310.4:p.His25759Arg
NM_133378.4:c.96767A>G (TTN)	NP_596869.4:p.His32256Arg
NM_133432.3:c.77651A>G (TTN)	NP_597676.3:p.His25884Arg
NM_133437.4:c.77852A>G (TTN)	NP_597681.4:p.His25951Arg
NR_038271.1:n.446+8508T>C (TTN-AS1)
NR_038272.1:n.220-3588T>C (TTN-AS1)
XM_011511729.1:c.103568A>G (TTN)	XP_011510031.1:p.His34523Arg
XM_011511730.1:c.77462A>G (TTN)	XP_011510032.1:p.His25821Arg
XM_011511731.1:c.77321A>G (TTN)	XP_011510033.1:p.His25774Arg
XM_017004819.1:c.103364A>G (TTN)	XP_016860308.1:p.His34455Arg
XM_017004820.1:c.98762A>G (TTN)	XP_016860309.1:p.His32921Arg
XM_017004821.1:c.98759A>G (TTN)	XP_016860310.1:p.His32920Arg
XM_017004822.1:c.95801A>G (TTN)	XP_016860311.1:p.His31934Arg
XM_017004823.1:c.77417A>G (TTN)	XP_016860312.1:p.His25806Arg
XM_024453094.1:c.98912A>G (TTN)	XP_024308862.1:p.His32971Arg
XM_024453095.1:c.98909A>G (TTN)	XP_024308863.1:p.His32970Arg
XM_024453096.1:c.98342A>G (TTN)	XP_024308864.1:p.His32781Arg
XM_024453097.1:c.95684A>G (TTN)	XP_024308865.1:p.His31895Arg
XM_024453098.1:c.95603A>G (TTN)	XP_024308866.1:p.His31868Arg
XM_024453099.1:c.77366A>G (TTN)	XP_024308867.1:p.His25789Arg
XM_024453100.1:c.67220A>G (TTN)	XP_024308868.1:p.His22407Arg