Canonical Allele Identifier: CA349496309

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178549849-C-T
• MyVariant Identifiers: chr2:g.179414576C>T (hg19) ; chr2:g.178549849C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549849C>T , CM000664.2:g.178549849C>T	GRCh38
NC_000002.11:g.179414576C>T , CM000664.1:g.179414576C>T	GRCh37
NC_000002.10:g.179122822C>T	NCBI36
NG_011618.3:g.285954G>A , LRG_391:g.285954G>A
NG_051363.1:g.32023C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84169G>A (TTN)	ENSP00000343764.6:p.Gly28057Arg
ENST00000342175.11:c.65254G>A (TTN)	ENSP00000340554.6:p.Gly21752Arg
ENST00000359218.10:c.65053G>A (TTN)	ENSP00000352154.5:p.Gly21685Arg
ENST00000342175.10:c.65254G>A (TTN)	ENSP00000340554.6:p.Gly21752Arg
ENST00000342992.10:c.84169G>A (TTN)	ENSP00000343764.6:p.Gly28057Arg
ENST00000359218.9:c.65053G>A (TTN)	ENSP00000352154.5:p.Gly21685Arg
ENST00000460472.6:c.64678G>A (TTN)	ENSP00000434586.1:p.Gly21560Arg
ENST00000589042.5:c.91873G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly30625Arg
ENST00000591111.5:c.86950G>A (TTN)	ENSP00000465570.1:p.Gly28984Arg
ENST00000615779.4:c.86950G>A (TTN)	ENSP00000483597.1:p.Gly28984Arg
NM_001256850.1:c.86950G>A (TTN)	NP_001243779.1:p.Gly28984Arg
NM_001267550.2:c.91873G>A (TTN) MANE Select	NP_001254479.2:p.Gly30625Arg
NM_003319.4:c.64678G>A (TTN)	NP_003310.4:p.Gly21560Arg
NM_133378.4:c.84169G>A (TTN)	NP_596869.4:p.Gly28057Arg
NM_133432.3:c.65053G>A (TTN)	NP_597676.3:p.Gly21685Arg
NM_133437.4:c.65254G>A (TTN)	NP_597681.4:p.Gly21752Arg
NR_038271.1:n.447-21451C>T (TTN-AS1)
NR_038272.1:n.2043+7488C>T (TTN-AS1)
XM_011511729.1:c.90970G>A (TTN)	XP_011510031.1:p.Gly30324Arg
XM_011511730.1:c.64864G>A (TTN)	XP_011510032.1:p.Gly21622Arg
XM_011511731.1:c.64723G>A (TTN)	XP_011510033.1:p.Gly21575Arg
XM_017004819.1:c.90766G>A (TTN)	XP_016860308.1:p.Gly30256Arg
XM_017004820.1:c.86164G>A (TTN)	XP_016860309.1:p.Gly28722Arg
XM_017004821.1:c.86161G>A (TTN)	XP_016860310.1:p.Gly28721Arg
XM_017004822.1:c.83203G>A (TTN)	XP_016860311.1:p.Gly27735Arg
XM_017004823.1:c.64819G>A (TTN)	XP_016860312.1:p.Gly21607Arg
XM_024453094.1:c.86314G>A (TTN)	XP_024308862.1:p.Gly28772Arg
XM_024453095.1:c.86311G>A (TTN)	XP_024308863.1:p.Gly28771Arg
XM_024453096.1:c.85744G>A (TTN)	XP_024308864.1:p.Gly28582Arg
XM_024453097.1:c.83086G>A (TTN)	XP_024308865.1:p.Gly27696Arg
XM_024453098.1:c.83005G>A (TTN)	XP_024308866.1:p.Gly27669Arg
XM_024453099.1:c.64768G>A (TTN)	XP_024308867.1:p.Gly21590Arg
XM_024453100.1:c.54622G>A (TTN)	XP_024308868.1:p.Gly18208Arg