Canonical Allele Identifier: CA10604092

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 282174
• ClinVar RCV Id: RCV000486995 ; RCV001227214 ; RCV004017581
• dbSNP Id: rs886042331
• gnomAD v4: 2-178564096-G-A
• MyVariant Identifiers: chr2:g.179428823G>A (hg19) ; chr2:g.178564096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564096G>A , CM000664.2:g.178564096G>A	GRCh38
NC_000002.11:g.179428823G>A , CM000664.1:g.179428823G>A	GRCh37
NC_000002.10:g.179137069G>A	NCBI36
NG_011618.3:g.271707C>T , LRG_391:g.271707C>T
NG_051363.1:g.46270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.74332C>T (TTN)	ENSP00000343764.6:p.Gln24778Ter
ENST00000342175.11:c.55417C>T (TTN)	ENSP00000340554.6:p.Gln18473Ter
ENST00000359218.10:c.55216C>T (TTN)	ENSP00000352154.5:p.Gln18406Ter
ENST00000342175.10:c.55417C>T (TTN)	ENSP00000340554.6:p.Gln18473Ter
ENST00000342992.10:c.74332C>T (TTN)	ENSP00000343764.6:p.Gln24778Ter
ENST00000359218.9:c.55216C>T (TTN)	ENSP00000352154.5:p.Gln18406Ter
ENST00000460472.6:c.54841C>T (TTN)	ENSP00000434586.1:p.Gln18281Ter
ENST00000589042.5:c.82036C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln27346Ter
ENST00000591111.5:c.77113C>T (TTN)	ENSP00000465570.1:p.Gln25705Ter
ENST00000615779.4:c.77113C>T (TTN)	ENSP00000483597.1:p.Gln25705Ter
NM_001256850.1:c.77113C>T (TTN)	NP_001243779.1:p.Gln25705Ter
NM_001267550.2:c.82036C>T (TTN) MANE Select	NP_001254479.2:p.Gln27346Ter
NM_003319.4:c.54841C>T (TTN)	NP_003310.4:p.Gln18281Ter
NM_133378.4:c.74332C>T (TTN)	NP_596869.4:p.Gln24778Ter
NM_133432.3:c.55216C>T (TTN)	NP_597676.3:p.Gln18406Ter
NM_133437.4:c.55417C>T (TTN)	NP_597681.4:p.Gln18473Ter
NR_038271.1:n.447-7204G>A (TTN-AS1)
NR_038272.1:n.2044-18476G>A (TTN-AS1)
XM_011511729.1:c.81133C>T (TTN)	XP_011510031.1:p.Gln27045Ter
XM_011511730.1:c.55027C>T (TTN)	XP_011510032.1:p.Gln18343Ter
XM_011511731.1:c.54886C>T (TTN)	XP_011510033.1:p.Gln18296Ter
XM_017004819.1:c.80929C>T (TTN)	XP_016860308.1:p.Gln26977Ter
XM_017004820.1:c.76327C>T (TTN)	XP_016860309.1:p.Gln25443Ter
XM_017004821.1:c.76324C>T (TTN)	XP_016860310.1:p.Gln25442Ter
XM_017004822.1:c.73366C>T (TTN)	XP_016860311.1:p.Gln24456Ter
XM_017004823.1:c.54982C>T (TTN)	XP_016860312.1:p.Gln18328Ter
XM_024453094.1:c.76477C>T (TTN)	XP_024308862.1:p.Gln25493Ter
XM_024453095.1:c.76474C>T (TTN)	XP_024308863.1:p.Gln25492Ter
XM_024453096.1:c.75907C>T (TTN)	XP_024308864.1:p.Gln25303Ter
XM_024453097.1:c.73249C>T (TTN)	XP_024308865.1:p.Gln24417Ter
XM_024453098.1:c.73168C>T (TTN)	XP_024308866.1:p.Gln24390Ter
XM_024453099.1:c.54931C>T (TTN)	XP_024308867.1:p.Gln18311Ter
XM_024453100.1:c.44785C>T (TTN)	XP_024308868.1:p.Gln14929Ter