Canonical Allele Identifier: CA430091457

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2578875
• ClinVar RCV Id: RCV003327051
• dbSNP Id: rs770506970
• gnomAD v2: 2-179391750-G-T
• gnomAD v3: 2-178527023-G-T
• gnomAD v4: 2-178527023-G-T
• COSMIC: COSM5954604 ; COSM5954605 ; COSM5954606 ; COSM5954607
• MyVariant Identifiers: chr2:g.179391750G>T (hg19) ; chr2:g.178527023G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527023G>T , CM000664.2:g.178527023G>T	GRCh38
NC_000002.11:g.179391750G>T , CM000664.1:g.179391750G>T	GRCh37
NC_000002.10:g.179099996G>T	NCBI36
NG_011618.3:g.308780C>A , LRG_391:g.308780C>A
NG_051363.1:g.9197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100261C>A (TTN)	ENSP00000343764.6:p.Arg33421=
ENST00000342175.11:c.81346C>A (TTN)	ENSP00000340554.6:p.Arg27116=
ENST00000359218.10:c.81145C>A (TTN)	ENSP00000352154.5:p.Arg27049=
ENST00000342175.10:c.81346C>A (TTN)	ENSP00000340554.6:p.Arg27116=
ENST00000342992.10:c.100261C>A (TTN)	ENSP00000343764.6:p.Arg33421=
ENST00000359218.9:c.81145C>A (TTN)	ENSP00000352154.5:p.Arg27049=
ENST00000460472.6:c.80770C>A (TTN)	ENSP00000434586.1:p.Arg26924=
ENST00000589042.5:c.107965C>A (TTN) MANE Select	ENSP00000467141.1:p.Arg35989=
ENST00000591111.5:c.103042C>A (TTN)	ENSP00000465570.1:p.Arg34348=
ENST00000615779.4:c.103042C>A (TTN)	ENSP00000483597.1:p.Arg34348=
NM_001256850.1:c.103042C>A (TTN)	NP_001243779.1:p.Arg34348=
NM_001267550.2:c.107965C>A (TTN) MANE Select	NP_001254479.2:p.Arg35989=
NM_003319.4:c.80770C>A (TTN)	NP_003310.4:p.Arg26924=
NM_133378.4:c.100261C>A (TTN)	NP_596869.4:p.Arg33421=
NM_133432.3:c.81145C>A (TTN)	NP_597676.3:p.Arg27049=
NM_133437.4:c.81346C>A (TTN)	NP_597681.4:p.Arg27116=
NR_038271.1:n.446+3387G>T (TTN-AS1)
NR_038272.1:n.219+3387G>T (TTN-AS1)
XM_011511729.1:c.107062C>A (TTN)	XP_011510031.1:p.Arg35688=
XM_011511730.1:c.80956C>A (TTN)	XP_011510032.1:p.Arg26986=
XM_011511731.1:c.80815C>A (TTN)	XP_011510033.1:p.Arg26939=
XM_017004819.1:c.106858C>A (TTN)	XP_016860308.1:p.Arg35620=
XM_017004820.1:c.102256C>A (TTN)	XP_016860309.1:p.Arg34086=
XM_017004821.1:c.102253C>A (TTN)	XP_016860310.1:p.Arg34085=
XM_017004822.1:c.99295C>A (TTN)	XP_016860311.1:p.Arg33099=
XM_017004823.1:c.80911C>A (TTN)	XP_016860312.1:p.Arg26971=
XM_024453094.1:c.102406C>A (TTN)	XP_024308862.1:p.Arg34136=
XM_024453095.1:c.102403C>A (TTN)	XP_024308863.1:p.Arg34135=
XM_024453096.1:c.101836C>A (TTN)	XP_024308864.1:p.Arg33946=
XM_024453097.1:c.99178C>A (TTN)	XP_024308865.1:p.Arg33060=
XM_024453098.1:c.99097C>A (TTN)	XP_024308866.1:p.Arg33033=
XM_024453099.1:c.80860C>A (TTN)	XP_024308867.1:p.Arg26954=
XM_024453100.1:c.70714C>A (TTN)	XP_024308868.1:p.Arg23572=