Canonical Allele Identifier: CA1994613

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 413133
• ClinVar RCV Id: RCV000595403 ; RCV001085352 ; RCV002429571
• dbSNP Id: rs200121902
• ExAC: 2:179478653 G / T
• gnomAD v2: 2-179478653-G-T
• gnomAD v3: 2-178613926-G-T
• gnomAD v4: 2-178613926-G-T
• MyVariant Identifiers: chr2:g.179478653G>T (hg19) ; chr2:g.178613926G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613926G>T , CM000664.2:g.178613926G>T	GRCh38
NC_000002.11:g.179478653G>T , CM000664.1:g.179478653G>T	GRCh37
NC_000002.10:g.179186898G>T	NCBI36
NG_011618.3:g.221877C>A , LRG_391:g.221877C>A
NG_051363.1:g.96100G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41653C>A (TTN)	ENSP00000343764.6:p.Pro13885Thr
ENST00000342175.11:c.22738C>A (TTN)	ENSP00000340554.6:p.Pro7580Thr
ENST00000359218.10:c.22537C>A (TTN)	ENSP00000352154.5:p.Pro7513Thr
ENST00000342175.10:c.22738C>A (TTN)	ENSP00000340554.6:p.Pro7580Thr
ENST00000342992.10:c.41653C>A (TTN)	ENSP00000343764.6:p.Pro13885Thr
ENST00000359218.9:c.22537C>A (TTN)	ENSP00000352154.5:p.Pro7513Thr
ENST00000460472.6:c.22162C>A (TTN)	ENSP00000434586.1:p.Pro7388Thr
ENST00000589042.5:c.49357C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro16453Thr
ENST00000591111.5:c.44434C>A (TTN)	ENSP00000465570.1:p.Pro14812Thr
ENST00000615779.4:c.44434C>A (TTN)	ENSP00000483597.1:p.Pro14812Thr
NM_001256850.1:c.44434C>A (TTN)	NP_001243779.1:p.Pro14812Thr
NM_001267550.2:c.49357C>A (TTN) MANE Select	NP_001254479.2:p.Pro16453Thr
NM_003319.4:c.22162C>A (TTN)	NP_003310.4:p.Pro7388Thr
NM_133378.4:c.41653C>A (TTN)	NP_596869.4:p.Pro13885Thr
NM_133432.3:c.22537C>A (TTN)	NP_597676.3:p.Pro7513Thr
NM_133437.4:c.22738C>A (TTN)	NP_597681.4:p.Pro7580Thr
NR_038271.1:n.783-109G>T (TTN-AS1)
XM_011511729.1:c.48454C>A (TTN)	XP_011510031.1:p.Pro16152Thr
XM_011511730.1:c.22348C>A (TTN)	XP_011510032.1:p.Pro7450Thr
XM_011511731.1:c.22207C>A (TTN)	XP_011510033.1:p.Pro7403Thr
XM_017004819.1:c.48250C>A (TTN)	XP_016860308.1:p.Pro16084Thr
XM_017004820.1:c.43648C>A (TTN)	XP_016860309.1:p.Pro14550Thr
XM_017004821.1:c.43645C>A (TTN)	XP_016860310.1:p.Pro14549Thr
XM_017004822.1:c.40687C>A (TTN)	XP_016860311.1:p.Pro13563Thr
XM_017004823.1:c.22303C>A (TTN)	XP_016860312.1:p.Pro7435Thr
XM_024453094.1:c.43798C>A (TTN)	XP_024308862.1:p.Pro14600Thr
XM_024453095.1:c.43795C>A (TTN)	XP_024308863.1:p.Pro14599Thr
XM_024453096.1:c.43228C>A (TTN)	XP_024308864.1:p.Pro14410Thr
XM_024453097.1:c.40570C>A (TTN)	XP_024308865.1:p.Pro13524Thr
XM_024453098.1:c.40489C>A (TTN)	XP_024308866.1:p.Pro13497Thr
XM_024453099.1:c.22252C>A (TTN)	XP_024308867.1:p.Pro7418Thr
XM_024453100.1:c.12106C>A (TTN)	XP_024308868.1:p.Pro4036Thr