Canonical Allele Identifier: CA60960675

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1339675
• ClinVar RCV Id: RCV001825063
• dbSNP Id: rs998397847
• gnomAD v3: 2-178536162-A-G
• gnomAD v4: 2-178536162-A-G
• MyVariant Identifiers: chr2:g.179400889A>G (hg19) ; chr2:g.178536162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536162A>G , CM000664.2:g.178536162A>G	GRCh38
NC_000002.11:g.179400889A>G , CM000664.1:g.179400889A>G	GRCh37
NC_000002.10:g.179109135A>G	NCBI36
NG_011618.3:g.299641T>C , LRG_391:g.299641T>C
NG_051363.1:g.18336A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92881T>C (TTN)	ENSP00000343764.6:p.Trp30961Arg
ENST00000342175.11:c.73966T>C (TTN)	ENSP00000340554.6:p.Trp24656Arg
ENST00000359218.10:c.73765T>C (TTN)	ENSP00000352154.5:p.Trp24589Arg
ENST00000342175.10:c.73966T>C (TTN)	ENSP00000340554.6:p.Trp24656Arg
ENST00000342992.10:c.92881T>C (TTN)	ENSP00000343764.6:p.Trp30961Arg
ENST00000359218.9:c.73765T>C (TTN)	ENSP00000352154.5:p.Trp24589Arg
ENST00000460472.6:c.73390T>C (TTN)	ENSP00000434586.1:p.Trp24464Arg
ENST00000589042.5:c.100585T>C (TTN) MANE Select	ENSP00000467141.1:p.Trp33529Arg
ENST00000591111.5:c.95662T>C (TTN)	ENSP00000465570.1:p.Trp31888Arg
ENST00000615779.4:c.95662T>C (TTN)	ENSP00000483597.1:p.Trp31888Arg
NM_001256850.1:c.95662T>C (TTN)	NP_001243779.1:p.Trp31888Arg
NM_001267550.2:c.100585T>C (TTN) MANE Select	NP_001254479.2:p.Trp33529Arg
NM_003319.4:c.73390T>C (TTN)	NP_003310.4:p.Trp24464Arg
NM_133378.4:c.92881T>C (TTN)	NP_596869.4:p.Trp30961Arg
NM_133432.3:c.73765T>C (TTN)	NP_597676.3:p.Trp24589Arg
NM_133437.4:c.73966T>C (TTN)	NP_597681.4:p.Trp24656Arg
NR_038271.1:n.446+12526A>G (TTN-AS1)
NR_038272.1:n.316+334A>G (TTN-AS1)
XM_011511729.1:c.99682T>C (TTN)	XP_011510031.1:p.Trp33228Arg
XM_011511730.1:c.73576T>C (TTN)	XP_011510032.1:p.Trp24526Arg
XM_011511731.1:c.73435T>C (TTN)	XP_011510033.1:p.Trp24479Arg
XM_017004819.1:c.99478T>C (TTN)	XP_016860308.1:p.Trp33160Arg
XM_017004820.1:c.94876T>C (TTN)	XP_016860309.1:p.Trp31626Arg
XM_017004821.1:c.94873T>C (TTN)	XP_016860310.1:p.Trp31625Arg
XM_017004822.1:c.91915T>C (TTN)	XP_016860311.1:p.Trp30639Arg
XM_017004823.1:c.73531T>C (TTN)	XP_016860312.1:p.Trp24511Arg
XM_024453094.1:c.95026T>C (TTN)	XP_024308862.1:p.Trp31676Arg
XM_024453095.1:c.95023T>C (TTN)	XP_024308863.1:p.Trp31675Arg
XM_024453096.1:c.94456T>C (TTN)	XP_024308864.1:p.Trp31486Arg
XM_024453097.1:c.91798T>C (TTN)	XP_024308865.1:p.Trp30600Arg
XM_024453098.1:c.91717T>C (TTN)	XP_024308866.1:p.Trp30573Arg
XM_024453099.1:c.73480T>C (TTN)	XP_024308867.1:p.Trp24494Arg
XM_024453100.1:c.63334T>C (TTN)	XP_024308868.1:p.Trp21112Arg