Canonical Allele Identifier: CA349411928

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178532262-C-T
• MyVariant Identifiers: chr2:g.179396989C>T (hg19) ; chr2:g.178532262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532262C>T , CM000664.2:g.178532262C>T	GRCh38
NC_000002.11:g.179396989C>T , CM000664.1:g.179396989C>T	GRCh37
NC_000002.10:g.179105235C>T	NCBI36
NG_011618.3:g.303541G>A , LRG_391:g.303541G>A
NG_051363.1:g.14436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96649G>A (TTN)	ENSP00000343764.6:p.Glu32217Lys
ENST00000342175.11:c.77734G>A (TTN)	ENSP00000340554.6:p.Glu25912Lys
ENST00000359218.10:c.77533G>A (TTN)	ENSP00000352154.5:p.Glu25845Lys
ENST00000342175.10:c.77734G>A (TTN)	ENSP00000340554.6:p.Glu25912Lys
ENST00000342992.10:c.96649G>A (TTN)	ENSP00000343764.6:p.Glu32217Lys
ENST00000359218.9:c.77533G>A (TTN)	ENSP00000352154.5:p.Glu25845Lys
ENST00000460472.6:c.77158G>A (TTN)	ENSP00000434586.1:p.Glu25720Lys
ENST00000589042.5:c.104353G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu34785Lys
ENST00000591111.5:c.99430G>A (TTN)	ENSP00000465570.1:p.Glu33144Lys
ENST00000615779.4:c.99430G>A (TTN)	ENSP00000483597.1:p.Glu33144Lys
NM_001256850.1:c.99430G>A (TTN)	NP_001243779.1:p.Glu33144Lys
NM_001267550.2:c.104353G>A (TTN) MANE Select	NP_001254479.2:p.Glu34785Lys
NM_003319.4:c.77158G>A (TTN)	NP_003310.4:p.Glu25720Lys
NM_133378.4:c.96649G>A (TTN)	NP_596869.4:p.Glu32217Lys
NM_133432.3:c.77533G>A (TTN)	NP_597676.3:p.Glu25845Lys
NM_133437.4:c.77734G>A (TTN)	NP_597681.4:p.Glu25912Lys
NR_038271.1:n.446+8626C>T (TTN-AS1)
NR_038272.1:n.220-3470C>T (TTN-AS1)
XM_011511729.1:c.103450G>A (TTN)	XP_011510031.1:p.Glu34484Lys
XM_011511730.1:c.77344G>A (TTN)	XP_011510032.1:p.Glu25782Lys
XM_011511731.1:c.77203G>A (TTN)	XP_011510033.1:p.Glu25735Lys
XM_017004819.1:c.103246G>A (TTN)	XP_016860308.1:p.Glu34416Lys
XM_017004820.1:c.98644G>A (TTN)	XP_016860309.1:p.Glu32882Lys
XM_017004821.1:c.98641G>A (TTN)	XP_016860310.1:p.Glu32881Lys
XM_017004822.1:c.95683G>A (TTN)	XP_016860311.1:p.Glu31895Lys
XM_017004823.1:c.77299G>A (TTN)	XP_016860312.1:p.Glu25767Lys
XM_024453094.1:c.98794G>A (TTN)	XP_024308862.1:p.Glu32932Lys
XM_024453095.1:c.98791G>A (TTN)	XP_024308863.1:p.Glu32931Lys
XM_024453096.1:c.98224G>A (TTN)	XP_024308864.1:p.Glu32742Lys
XM_024453097.1:c.95566G>A (TTN)	XP_024308865.1:p.Glu31856Lys
XM_024453098.1:c.95485G>A (TTN)	XP_024308866.1:p.Glu31829Lys
XM_024453099.1:c.77248G>A (TTN)	XP_024308867.1:p.Glu25750Lys
XM_024453100.1:c.67102G>A (TTN)	XP_024308868.1:p.Glu22368Lys