Canonical Allele Identifier: CA349405236

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1394513
• ClinVar RCV Id: RCV001884827
• dbSNP Id: rs1423470146
• gnomAD v4: 2-178530047-T-A
• MyVariant Identifiers: chr2:g.179394774T>A (hg19) ; chr2:g.178530047T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530047T>A , CM000664.2:g.178530047T>A	GRCh38
NC_000002.11:g.179394774T>A , CM000664.1:g.179394774T>A	GRCh37
NC_000002.10:g.179103020T>A	NCBI36
NG_011618.3:g.305756A>T , LRG_391:g.305756A>T
NG_051363.1:g.12221T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98740A>T (TTN)	ENSP00000343764.6:p.Thr32914Ser
ENST00000342175.11:c.79825A>T (TTN)	ENSP00000340554.6:p.Thr26609Ser
ENST00000359218.10:c.79624A>T (TTN)	ENSP00000352154.5:p.Thr26542Ser
ENST00000342175.10:c.79825A>T (TTN)	ENSP00000340554.6:p.Thr26609Ser
ENST00000342992.10:c.98740A>T (TTN)	ENSP00000343764.6:p.Thr32914Ser
ENST00000359218.9:c.79624A>T (TTN)	ENSP00000352154.5:p.Thr26542Ser
ENST00000460472.6:c.79249A>T (TTN)	ENSP00000434586.1:p.Thr26417Ser
ENST00000589042.5:c.106444A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr35482Ser
ENST00000591111.5:c.101521A>T (TTN)	ENSP00000465570.1:p.Thr33841Ser
ENST00000615779.4:c.101521A>T (TTN)	ENSP00000483597.1:p.Thr33841Ser
NM_001256850.1:c.101521A>T (TTN)	NP_001243779.1:p.Thr33841Ser
NM_001267550.2:c.106444A>T (TTN) MANE Select	NP_001254479.2:p.Thr35482Ser
NM_003319.4:c.79249A>T (TTN)	NP_003310.4:p.Thr26417Ser
NM_133378.4:c.98740A>T (TTN)	NP_596869.4:p.Thr32914Ser
NM_133432.3:c.79624A>T (TTN)	NP_597676.3:p.Thr26542Ser
NM_133437.4:c.79825A>T (TTN)	NP_597681.4:p.Thr26609Ser
NR_038271.1:n.446+6411T>A (TTN-AS1)
NR_038272.1:n.220-5685T>A (TTN-AS1)
XM_011511729.1:c.105541A>T (TTN)	XP_011510031.1:p.Thr35181Ser
XM_011511730.1:c.79435A>T (TTN)	XP_011510032.1:p.Thr26479Ser
XM_011511731.1:c.79294A>T (TTN)	XP_011510033.1:p.Thr26432Ser
XM_017004819.1:c.105337A>T (TTN)	XP_016860308.1:p.Thr35113Ser
XM_017004820.1:c.100735A>T (TTN)	XP_016860309.1:p.Thr33579Ser
XM_017004821.1:c.100732A>T (TTN)	XP_016860310.1:p.Thr33578Ser
XM_017004822.1:c.97774A>T (TTN)	XP_016860311.1:p.Thr32592Ser
XM_017004823.1:c.79390A>T (TTN)	XP_016860312.1:p.Thr26464Ser
XM_024453094.1:c.100885A>T (TTN)	XP_024308862.1:p.Thr33629Ser
XM_024453095.1:c.100882A>T (TTN)	XP_024308863.1:p.Thr33628Ser
XM_024453096.1:c.100315A>T (TTN)	XP_024308864.1:p.Thr33439Ser
XM_024453097.1:c.97657A>T (TTN)	XP_024308865.1:p.Thr32553Ser
XM_024453098.1:c.97576A>T (TTN)	XP_024308866.1:p.Thr32526Ser
XM_024453099.1:c.79339A>T (TTN)	XP_024308867.1:p.Thr26447Ser
XM_024453100.1:c.69193A>T (TTN)	XP_024308868.1:p.Thr23065Ser