Canonical Allele Identifier: CA60996323

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437941
• ClinVar RCV Id: RCV003137106
• dbSNP Id: rs893428451
• gnomAD v2: 2-179435669-T-C
• gnomAD v3: 2-178570942-T-C
• gnomAD v4: 2-178570942-T-C
• MyVariant Identifiers: chr2:g.179435669T>C (hg19) ; chr2:g.178570942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570942T>C , CM000664.2:g.178570942T>C	GRCh38
NC_000002.11:g.179435669T>C , CM000664.1:g.179435669T>C	GRCh37
NC_000002.10:g.179143915T>C	NCBI36
NG_011618.3:g.264861A>G , LRG_391:g.264861A>G
NG_051363.1:g.53116T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67486A>G (TTN)	ENSP00000343764.6:p.Thr22496Ala
ENST00000342175.11:c.48571A>G (TTN)	ENSP00000340554.6:p.Thr16191Ala
ENST00000359218.10:c.48370A>G (TTN)	ENSP00000352154.5:p.Thr16124Ala
ENST00000342175.10:c.48571A>G (TTN)	ENSP00000340554.6:p.Thr16191Ala
ENST00000342992.10:c.67486A>G (TTN)	ENSP00000343764.6:p.Thr22496Ala
ENST00000359218.9:c.48370A>G (TTN)	ENSP00000352154.5:p.Thr16124Ala
ENST00000460472.6:c.47995A>G (TTN)	ENSP00000434586.1:p.Thr15999Ala
ENST00000589042.5:c.75190A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25064Ala
ENST00000591111.5:c.70267A>G (TTN)	ENSP00000465570.1:p.Thr23423Ala
ENST00000615779.4:c.70267A>G (TTN)	ENSP00000483597.1:p.Thr23423Ala
NM_001256850.1:c.70267A>G (TTN)	NP_001243779.1:p.Thr23423Ala
NM_001267550.2:c.75190A>G (TTN) MANE Select	NP_001254479.2:p.Thr25064Ala
NM_003319.4:c.47995A>G (TTN)	NP_003310.4:p.Thr15999Ala
NM_133378.4:c.67486A>G (TTN)	NP_596869.4:p.Thr22496Ala
NM_133432.3:c.48370A>G (TTN)	NP_597676.3:p.Thr16124Ala
NM_133437.4:c.48571A>G (TTN)	NP_597681.4:p.Thr16191Ala
NR_038271.1:n.447-358T>C (TTN-AS1)
NR_038272.1:n.2044-11630T>C (TTN-AS1)
XM_011511729.1:c.74287A>G (TTN)	XP_011510031.1:p.Thr24763Ala
XM_011511730.1:c.48181A>G (TTN)	XP_011510032.1:p.Thr16061Ala
XM_011511731.1:c.48040A>G (TTN)	XP_011510033.1:p.Thr16014Ala
XM_017004819.1:c.74083A>G (TTN)	XP_016860308.1:p.Thr24695Ala
XM_017004820.1:c.69481A>G (TTN)	XP_016860309.1:p.Thr23161Ala
XM_017004821.1:c.69478A>G (TTN)	XP_016860310.1:p.Thr23160Ala
XM_017004822.1:c.66520A>G (TTN)	XP_016860311.1:p.Thr22174Ala
XM_017004823.1:c.48136A>G (TTN)	XP_016860312.1:p.Thr16046Ala
XM_024453094.1:c.69631A>G (TTN)	XP_024308862.1:p.Thr23211Ala
XM_024453095.1:c.69628A>G (TTN)	XP_024308863.1:p.Thr23210Ala
XM_024453096.1:c.69061A>G (TTN)	XP_024308864.1:p.Thr23021Ala
XM_024453097.1:c.66403A>G (TTN)	XP_024308865.1:p.Thr22135Ala
XM_024453098.1:c.66322A>G (TTN)	XP_024308866.1:p.Thr22108Ala
XM_024453099.1:c.48085A>G (TTN)	XP_024308867.1:p.Thr16029Ala
XM_024453100.1:c.37939A>G (TTN)	XP_024308868.1:p.Thr12647Ala