Canonical Allele Identifier: CA349544140

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs181167673
• gnomAD v3: 2-178559745-C-A
• gnomAD v4: 2-178559745-C-A
• MyVariant Identifiers: chr2:g.179424472C>A (hg19) ; chr2:g.178559745C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559745C>A , CM000664.2:g.178559745C>A	GRCh38
NC_000002.11:g.179424472C>A , CM000664.1:g.179424472C>A	GRCh37
NC_000002.10:g.179132718C>A	NCBI36
NG_011618.3:g.276058G>T , LRG_391:g.276058G>T
NG_051363.1:g.41919C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78683G>T (TTN)	ENSP00000343764.6:p.Arg26228Leu
ENST00000342175.11:c.59768G>T (TTN)	ENSP00000340554.6:p.Arg19923Leu
ENST00000359218.10:c.59567G>T (TTN)	ENSP00000352154.5:p.Arg19856Leu
ENST00000342175.10:c.59768G>T (TTN)	ENSP00000340554.6:p.Arg19923Leu
ENST00000342992.10:c.78683G>T (TTN)	ENSP00000343764.6:p.Arg26228Leu
ENST00000359218.9:c.59567G>T (TTN)	ENSP00000352154.5:p.Arg19856Leu
ENST00000460472.6:c.59192G>T (TTN)	ENSP00000434586.1:p.Arg19731Leu
ENST00000589042.5:c.86387G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg28796Leu
ENST00000591111.5:c.81464G>T (TTN)	ENSP00000465570.1:p.Arg27155Leu
ENST00000615779.4:c.81464G>T (TTN)	ENSP00000483597.1:p.Arg27155Leu
NM_001256850.1:c.81464G>T (TTN)	NP_001243779.1:p.Arg27155Leu
NM_001267550.2:c.86387G>T (TTN) MANE Select	NP_001254479.2:p.Arg28796Leu
NM_003319.4:c.59192G>T (TTN)	NP_003310.4:p.Arg19731Leu
NM_133378.4:c.78683G>T (TTN)	NP_596869.4:p.Arg26228Leu
NM_133432.3:c.59567G>T (TTN)	NP_597676.3:p.Arg19856Leu
NM_133437.4:c.59768G>T (TTN)	NP_597681.4:p.Arg19923Leu
NR_038271.1:n.447-11555C>A (TTN-AS1)
NR_038272.1:n.2043+17384C>A (TTN-AS1)
XM_011511729.1:c.85484G>T (TTN)	XP_011510031.1:p.Arg28495Leu
XM_011511730.1:c.59378G>T (TTN)	XP_011510032.1:p.Arg19793Leu
XM_011511731.1:c.59237G>T (TTN)	XP_011510033.1:p.Arg19746Leu
XM_017004819.1:c.85280G>T (TTN)	XP_016860308.1:p.Arg28427Leu
XM_017004820.1:c.80678G>T (TTN)	XP_016860309.1:p.Arg26893Leu
XM_017004821.1:c.80675G>T (TTN)	XP_016860310.1:p.Arg26892Leu
XM_017004822.1:c.77717G>T (TTN)	XP_016860311.1:p.Arg25906Leu
XM_017004823.1:c.59333G>T (TTN)	XP_016860312.1:p.Arg19778Leu
XM_024453094.1:c.80828G>T (TTN)	XP_024308862.1:p.Arg26943Leu
XM_024453095.1:c.80825G>T (TTN)	XP_024308863.1:p.Arg26942Leu
XM_024453096.1:c.80258G>T (TTN)	XP_024308864.1:p.Arg26753Leu
XM_024453097.1:c.77600G>T (TTN)	XP_024308865.1:p.Arg25867Leu
XM_024453098.1:c.77519G>T (TTN)	XP_024308866.1:p.Arg25840Leu
XM_024453099.1:c.59282G>T (TTN)	XP_024308867.1:p.Arg19761Leu
XM_024453100.1:c.49136G>T (TTN)	XP_024308868.1:p.Arg16379Leu