Canonical Allele Identifier: CA1994614

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1119477
• ClinVar RCV Id: RCV001448942
• dbSNP Id: rs774444882
• ExAC: 2:179478663 A / G
• gnomAD v2: 2-179478663-A-G
• gnomAD v4: 2-178613936-A-G
• MyVariant Identifiers: chr2:g.179478663A>G (hg19) ; chr2:g.178613936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613936A>G , CM000664.2:g.178613936A>G	GRCh38
NC_000002.11:g.179478663A>G , CM000664.1:g.179478663A>G	GRCh37
NC_000002.10:g.179186908A>G	NCBI36
NG_011618.3:g.221867T>C , LRG_391:g.221867T>C
NG_051363.1:g.96110A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41643T>C (TTN)	ENSP00000343764.6:p.Asp13881=
ENST00000342175.11:c.22728T>C (TTN)	ENSP00000340554.6:p.Asp7576=
ENST00000359218.10:c.22527T>C (TTN)	ENSP00000352154.5:p.Asp7509=
ENST00000342175.10:c.22728T>C (TTN)	ENSP00000340554.6:p.Asp7576=
ENST00000342992.10:c.41643T>C (TTN)	ENSP00000343764.6:p.Asp13881=
ENST00000359218.9:c.22527T>C (TTN)	ENSP00000352154.5:p.Asp7509=
ENST00000460472.6:c.22152T>C (TTN)	ENSP00000434586.1:p.Asp7384=
ENST00000589042.5:c.49347T>C (TTN) MANE Select	ENSP00000467141.1:p.Asp16449=
ENST00000591111.5:c.44424T>C (TTN)	ENSP00000465570.1:p.Asp14808=
ENST00000615779.4:c.44424T>C (TTN)	ENSP00000483597.1:p.Asp14808=
NM_001256850.1:c.44424T>C (TTN)	NP_001243779.1:p.Asp14808=
NM_001267550.2:c.49347T>C (TTN) MANE Select	NP_001254479.2:p.Asp16449=
NM_003319.4:c.22152T>C (TTN)	NP_003310.4:p.Asp7384=
NM_133378.4:c.41643T>C (TTN)	NP_596869.4:p.Asp13881=
NM_133432.3:c.22527T>C (TTN)	NP_597676.3:p.Asp7509=
NM_133437.4:c.22728T>C (TTN)	NP_597681.4:p.Asp7576=
NR_038271.1:n.783-99A>G (TTN-AS1)
XM_011511729.1:c.48444T>C (TTN)	XP_011510031.1:p.Asp16148=
XM_011511730.1:c.22338T>C (TTN)	XP_011510032.1:p.Asp7446=
XM_011511731.1:c.22197T>C (TTN)	XP_011510033.1:p.Asp7399=
XM_017004819.1:c.48240T>C (TTN)	XP_016860308.1:p.Asp16080=
XM_017004820.1:c.43638T>C (TTN)	XP_016860309.1:p.Asp14546=
XM_017004821.1:c.43635T>C (TTN)	XP_016860310.1:p.Asp14545=
XM_017004822.1:c.40677T>C (TTN)	XP_016860311.1:p.Asp13559=
XM_017004823.1:c.22293T>C (TTN)	XP_016860312.1:p.Asp7431=
XM_024453094.1:c.43788T>C (TTN)	XP_024308862.1:p.Asp14596=
XM_024453095.1:c.43785T>C (TTN)	XP_024308863.1:p.Asp14595=
XM_024453096.1:c.43218T>C (TTN)	XP_024308864.1:p.Asp14406=
XM_024453097.1:c.40560T>C (TTN)	XP_024308865.1:p.Asp13520=
XM_024453098.1:c.40479T>C (TTN)	XP_024308866.1:p.Asp13493=
XM_024453099.1:c.22242T>C (TTN)	XP_024308867.1:p.Asp7414=
XM_024453100.1:c.12096T>C (TTN)	XP_024308868.1:p.Asp4032=