Canonical Allele Identifier: CA349446290

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1486085185
• gnomAD v2: 2-179408060-C-T
• gnomAD v4: 2-178543333-C-T
• MyVariant Identifiers: chr2:g.179408060C>T (hg19) ; chr2:g.178543333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543333C>T , CM000664.2:g.178543333C>T	GRCh38
NC_000002.11:g.179408060C>T , CM000664.1:g.179408060C>T	GRCh37
NC_000002.10:g.179116306C>T	NCBI36
NG_011618.3:g.292470G>A , LRG_391:g.292470G>A
NG_051363.1:g.25507C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88936G>A (TTN)	ENSP00000343764.6:p.Val29646Ile
ENST00000342175.11:c.70021G>A (TTN)	ENSP00000340554.6:p.Val23341Ile
ENST00000359218.10:c.69820G>A (TTN)	ENSP00000352154.5:p.Val23274Ile
ENST00000342175.10:c.70021G>A (TTN)	ENSP00000340554.6:p.Val23341Ile
ENST00000342992.10:c.88936G>A (TTN)	ENSP00000343764.6:p.Val29646Ile
ENST00000359218.9:c.69820G>A (TTN)	ENSP00000352154.5:p.Val23274Ile
ENST00000460472.6:c.69445G>A (TTN)	ENSP00000434586.1:p.Val23149Ile
ENST00000589042.5:c.96640G>A (TTN) MANE Select	ENSP00000467141.1:p.Val32214Ile
ENST00000591111.5:c.91717G>A (TTN)	ENSP00000465570.1:p.Val30573Ile
ENST00000615779.4:c.91717G>A (TTN)	ENSP00000483597.1:p.Val30573Ile
NM_001256850.1:c.91717G>A (TTN)	NP_001243779.1:p.Val30573Ile
NM_001267550.2:c.96640G>A (TTN) MANE Select	NP_001254479.2:p.Val32214Ile
NM_003319.4:c.69445G>A (TTN)	NP_003310.4:p.Val23149Ile
NM_133378.4:c.88936G>A (TTN)	NP_596869.4:p.Val29646Ile
NM_133432.3:c.69820G>A (TTN)	NP_597676.3:p.Val23274Ile
NM_133437.4:c.70021G>A (TTN)	NP_597681.4:p.Val23341Ile
NR_038271.1:n.446+19697C>T (TTN-AS1)
NR_038272.1:n.2043+972C>T (TTN-AS1)
XM_011511729.1:c.95737G>A (TTN)	XP_011510031.1:p.Val31913Ile
XM_011511730.1:c.69631G>A (TTN)	XP_011510032.1:p.Val23211Ile
XM_011511731.1:c.69490G>A (TTN)	XP_011510033.1:p.Val23164Ile
XM_017004819.1:c.95533G>A (TTN)	XP_016860308.1:p.Val31845Ile
XM_017004820.1:c.90931G>A (TTN)	XP_016860309.1:p.Val30311Ile
XM_017004821.1:c.90928G>A (TTN)	XP_016860310.1:p.Val30310Ile
XM_017004822.1:c.87970G>A (TTN)	XP_016860311.1:p.Val29324Ile
XM_017004823.1:c.69586G>A (TTN)	XP_016860312.1:p.Val23196Ile
XM_024453094.1:c.91081G>A (TTN)	XP_024308862.1:p.Val30361Ile
XM_024453095.1:c.91078G>A (TTN)	XP_024308863.1:p.Val30360Ile
XM_024453096.1:c.90511G>A (TTN)	XP_024308864.1:p.Val30171Ile
XM_024453097.1:c.87853G>A (TTN)	XP_024308865.1:p.Val29285Ile
XM_024453098.1:c.87772G>A (TTN)	XP_024308866.1:p.Val29258Ile
XM_024453099.1:c.69535G>A (TTN)	XP_024308867.1:p.Val23179Ile
XM_024453100.1:c.59389G>A (TTN)	XP_024308868.1:p.Val19797Ile