Canonical Allele Identifier: CA349672208

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1422284948
• gnomAD v2: 2-179442736-C-A
• gnomAD v4: 2-178578009-C-A
• MyVariant Identifiers: chr2:g.179442736C>A (hg19) ; chr2:g.178578009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578009C>A , CM000664.2:g.178578009C>A	GRCh38
NC_000002.11:g.179442736C>A , CM000664.1:g.179442736C>A	GRCh37
NC_000002.10:g.179150982C>A	NCBI36
NG_011618.3:g.257794G>T , LRG_391:g.257794G>T
NG_051363.1:g.60183C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60802G>T (TTN)	ENSP00000343764.6:p.Val20268Phe
ENST00000342175.11:c.41887G>T (TTN)	ENSP00000340554.6:p.Val13963Phe
ENST00000359218.10:c.41686G>T (TTN)	ENSP00000352154.5:p.Val13896Phe
ENST00000342175.10:c.41887G>T (TTN)	ENSP00000340554.6:p.Val13963Phe
ENST00000342992.10:c.60802G>T (TTN)	ENSP00000343764.6:p.Val20268Phe
ENST00000359218.9:c.41686G>T (TTN)	ENSP00000352154.5:p.Val13896Phe
ENST00000460472.6:c.41311G>T (TTN)	ENSP00000434586.1:p.Val13771Phe
ENST00000589042.5:c.68506G>T (TTN) MANE Select	ENSP00000467141.1:p.Val22836Phe
ENST00000591111.5:c.63583G>T (TTN)	ENSP00000465570.1:p.Val21195Phe
ENST00000615779.4:c.63583G>T (TTN)	ENSP00000483597.1:p.Val21195Phe
NM_001256850.1:c.63583G>T (TTN)	NP_001243779.1:p.Val21195Phe
NM_001267550.2:c.68506G>T (TTN) MANE Select	NP_001254479.2:p.Val22836Phe
NM_003319.4:c.41311G>T (TTN)	NP_003310.4:p.Val13771Phe
NM_133378.4:c.60802G>T (TTN)	NP_596869.4:p.Val20268Phe
NM_133432.3:c.41686G>T (TTN)	NP_597676.3:p.Val13896Phe
NM_133437.4:c.41887G>T (TTN)	NP_597681.4:p.Val13963Phe
NR_038271.1:n.596+6560C>A (TTN-AS1)
NR_038272.1:n.2044-4563C>A (TTN-AS1)
XM_011511729.1:c.67603G>T (TTN)	XP_011510031.1:p.Val22535Phe
XM_011511730.1:c.41497G>T (TTN)	XP_011510032.1:p.Val13833Phe
XM_011511731.1:c.41356G>T (TTN)	XP_011510033.1:p.Val13786Phe
XM_017004819.1:c.67399G>T (TTN)	XP_016860308.1:p.Val22467Phe
XM_017004820.1:c.62797G>T (TTN)	XP_016860309.1:p.Val20933Phe
XM_017004821.1:c.62794G>T (TTN)	XP_016860310.1:p.Val20932Phe
XM_017004822.1:c.59836G>T (TTN)	XP_016860311.1:p.Val19946Phe
XM_017004823.1:c.41452G>T (TTN)	XP_016860312.1:p.Val13818Phe
XM_024453094.1:c.62947G>T (TTN)	XP_024308862.1:p.Val20983Phe
XM_024453095.1:c.62944G>T (TTN)	XP_024308863.1:p.Val20982Phe
XM_024453096.1:c.62377G>T (TTN)	XP_024308864.1:p.Val20793Phe
XM_024453097.1:c.59719G>T (TTN)	XP_024308865.1:p.Val19907Phe
XM_024453098.1:c.59638G>T (TTN)	XP_024308866.1:p.Val19880Phe
XM_024453099.1:c.41401G>T (TTN)	XP_024308867.1:p.Val13801Phe
XM_024453100.1:c.31255G>T (TTN)	XP_024308868.1:p.Val10419Phe