Canonical Allele Identifier: CA430235294

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1761145
• ClinVar RCV Id: RCV002416657
• dbSNP Id: rs1461818483
• gnomAD v2: 2-179395136-T-C
• gnomAD v3: 2-178530409-T-C
• gnomAD v4: 2-178530409-T-C
• MyVariant Identifiers: chr2:g.179395136T>C (hg19) ; chr2:g.178530409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530409T>C , CM000664.2:g.178530409T>C	GRCh38
NC_000002.11:g.179395136T>C , CM000664.1:g.179395136T>C	GRCh37
NC_000002.10:g.179103382T>C	NCBI36
NG_011618.3:g.305394A>G , LRG_391:g.305394A>G
NG_051363.1:g.12583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98502A>G (TTN)	ENSP00000343764.6:p.Ser32834=
ENST00000342175.11:c.79587A>G (TTN)	ENSP00000340554.6:p.Ser26529=
ENST00000359218.10:c.79386A>G (TTN)	ENSP00000352154.5:p.Ser26462=
ENST00000342175.10:c.79587A>G (TTN)	ENSP00000340554.6:p.Ser26529=
ENST00000342992.10:c.98502A>G (TTN)	ENSP00000343764.6:p.Ser32834=
ENST00000359218.9:c.79386A>G (TTN)	ENSP00000352154.5:p.Ser26462=
ENST00000460472.6:c.79011A>G (TTN)	ENSP00000434586.1:p.Ser26337=
ENST00000589042.5:c.106206A>G (TTN) MANE Select	ENSP00000467141.1:p.Ser35402=
ENST00000591111.5:c.101283A>G (TTN)	ENSP00000465570.1:p.Ser33761=
ENST00000615779.4:c.101283A>G (TTN)	ENSP00000483597.1:p.Ser33761=
NM_001256850.1:c.101283A>G (TTN)	NP_001243779.1:p.Ser33761=
NM_001267550.2:c.106206A>G (TTN) MANE Select	NP_001254479.2:p.Ser35402=
NM_003319.4:c.79011A>G (TTN)	NP_003310.4:p.Ser26337=
NM_133378.4:c.98502A>G (TTN)	NP_596869.4:p.Ser32834=
NM_133432.3:c.79386A>G (TTN)	NP_597676.3:p.Ser26462=
NM_133437.4:c.79587A>G (TTN)	NP_597681.4:p.Ser26529=
NR_038271.1:n.446+6773T>C (TTN-AS1)
NR_038272.1:n.220-5323T>C (TTN-AS1)
XM_011511729.1:c.105303A>G (TTN)	XP_011510031.1:p.Ser35101=
XM_011511730.1:c.79197A>G (TTN)	XP_011510032.1:p.Ser26399=
XM_011511731.1:c.79056A>G (TTN)	XP_011510033.1:p.Ser26352=
XM_017004819.1:c.105099A>G (TTN)	XP_016860308.1:p.Ser35033=
XM_017004820.1:c.100497A>G (TTN)	XP_016860309.1:p.Ser33499=
XM_017004821.1:c.100494A>G (TTN)	XP_016860310.1:p.Ser33498=
XM_017004822.1:c.97536A>G (TTN)	XP_016860311.1:p.Ser32512=
XM_017004823.1:c.79152A>G (TTN)	XP_016860312.1:p.Ser26384=
XM_024453094.1:c.100647A>G (TTN)	XP_024308862.1:p.Ser33549=
XM_024453095.1:c.100644A>G (TTN)	XP_024308863.1:p.Ser33548=
XM_024453096.1:c.100077A>G (TTN)	XP_024308864.1:p.Ser33359=
XM_024453097.1:c.97419A>G (TTN)	XP_024308865.1:p.Ser32473=
XM_024453098.1:c.97338A>G (TTN)	XP_024308866.1:p.Ser32446=
XM_024453099.1:c.79101A>G (TTN)	XP_024308867.1:p.Ser26367=
XM_024453100.1:c.68955A>G (TTN)	XP_024308868.1:p.Ser22985=