Canonical Allele Identifier: CA349564222

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1703962301
• gnomAD v3: 2-178562307-T-G
• gnomAD v4: 2-178562307-T-G
• MyVariant Identifiers: chr2:g.179427034T>G (hg19) ; chr2:g.178562307T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562307T>G , CM000664.2:g.178562307T>G	GRCh38
NC_000002.11:g.179427034T>G , CM000664.1:g.179427034T>G	GRCh37
NC_000002.10:g.179135280T>G	NCBI36
NG_011618.3:g.273496A>C , LRG_391:g.273496A>C
NG_051363.1:g.44481T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76121A>C (TTN)	ENSP00000343764.6:p.Lys25374Thr
ENST00000342175.11:c.57206A>C (TTN)	ENSP00000340554.6:p.Lys19069Thr
ENST00000359218.10:c.57005A>C (TTN)	ENSP00000352154.5:p.Lys19002Thr
ENST00000342175.10:c.57206A>C (TTN)	ENSP00000340554.6:p.Lys19069Thr
ENST00000342992.10:c.76121A>C (TTN)	ENSP00000343764.6:p.Lys25374Thr
ENST00000359218.9:c.57005A>C (TTN)	ENSP00000352154.5:p.Lys19002Thr
ENST00000460472.6:c.56630A>C (TTN)	ENSP00000434586.1:p.Lys18877Thr
ENST00000589042.5:c.83825A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys27942Thr
ENST00000591111.5:c.78902A>C (TTN)	ENSP00000465570.1:p.Lys26301Thr
ENST00000615779.4:c.78902A>C (TTN)	ENSP00000483597.1:p.Lys26301Thr
NM_001256850.1:c.78902A>C (TTN)	NP_001243779.1:p.Lys26301Thr
NM_001267550.2:c.83825A>C (TTN) MANE Select	NP_001254479.2:p.Lys27942Thr
NM_003319.4:c.56630A>C (TTN)	NP_003310.4:p.Lys18877Thr
NM_133378.4:c.76121A>C (TTN)	NP_596869.4:p.Lys25374Thr
NM_133432.3:c.57005A>C (TTN)	NP_597676.3:p.Lys19002Thr
NM_133437.4:c.57206A>C (TTN)	NP_597681.4:p.Lys19069Thr
NR_038271.1:n.447-8993T>G (TTN-AS1)
NR_038272.1:n.2043+19946T>G (TTN-AS1)
XM_011511729.1:c.82922A>C (TTN)	XP_011510031.1:p.Lys27641Thr
XM_011511730.1:c.56816A>C (TTN)	XP_011510032.1:p.Lys18939Thr
XM_011511731.1:c.56675A>C (TTN)	XP_011510033.1:p.Lys18892Thr
XM_017004819.1:c.82718A>C (TTN)	XP_016860308.1:p.Lys27573Thr
XM_017004820.1:c.78116A>C (TTN)	XP_016860309.1:p.Lys26039Thr
XM_017004821.1:c.78113A>C (TTN)	XP_016860310.1:p.Lys26038Thr
XM_017004822.1:c.75155A>C (TTN)	XP_016860311.1:p.Lys25052Thr
XM_017004823.1:c.56771A>C (TTN)	XP_016860312.1:p.Lys18924Thr
XM_024453094.1:c.78266A>C (TTN)	XP_024308862.1:p.Lys26089Thr
XM_024453095.1:c.78263A>C (TTN)	XP_024308863.1:p.Lys26088Thr
XM_024453096.1:c.77696A>C (TTN)	XP_024308864.1:p.Lys25899Thr
XM_024453097.1:c.75038A>C (TTN)	XP_024308865.1:p.Lys25013Thr
XM_024453098.1:c.74957A>C (TTN)	XP_024308866.1:p.Lys24986Thr
XM_024453099.1:c.56720A>C (TTN)	XP_024308867.1:p.Lys18907Thr
XM_024453100.1:c.46574A>C (TTN)	XP_024308868.1:p.Lys15525Thr