Canonical Allele Identifier: CA309950

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202676
• ClinVar RCV Id: RCV000184579 ; RCV000248196 ; RCV000458087 ; RCV002485242
• dbSNP Id: rs374543277
• ExAC: 2:179478647 T / C
• gnomAD v2: 2-179478647-T-C
• gnomAD v3: 2-178613920-T-C
• gnomAD v4: 2-178613920-T-C
• MyVariant Identifiers: chr2:g.179478647T>C (hg19) ; chr2:g.178613920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613920T>C , CM000664.2:g.178613920T>C	GRCh38
NC_000002.11:g.179478647T>C , CM000664.1:g.179478647T>C	GRCh37
NC_000002.10:g.179186892T>C	NCBI36
NG_011618.3:g.221883A>G , LRG_391:g.221883A>G
NG_051363.1:g.96094T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41659A>G (TTN)	ENSP00000343764.6:p.Thr13887Ala
ENST00000342175.11:c.22744A>G (TTN)	ENSP00000340554.6:p.Thr7582Ala
ENST00000359218.10:c.22543A>G (TTN)	ENSP00000352154.5:p.Thr7515Ala
ENST00000342175.10:c.22744A>G (TTN)	ENSP00000340554.6:p.Thr7582Ala
ENST00000342992.10:c.41659A>G (TTN)	ENSP00000343764.6:p.Thr13887Ala
ENST00000359218.9:c.22543A>G (TTN)	ENSP00000352154.5:p.Thr7515Ala
ENST00000460472.6:c.22168A>G (TTN)	ENSP00000434586.1:p.Thr7390Ala
ENST00000589042.5:c.49363A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr16455Ala
ENST00000591111.5:c.44440A>G (TTN)	ENSP00000465570.1:p.Thr14814Ala
ENST00000615779.4:c.44440A>G (TTN)	ENSP00000483597.1:p.Thr14814Ala
NM_001256850.1:c.44440A>G (TTN)	NP_001243779.1:p.Thr14814Ala
NM_001267550.2:c.49363A>G (TTN) MANE Select	NP_001254479.2:p.Thr16455Ala
NM_003319.4:c.22168A>G (TTN)	NP_003310.4:p.Thr7390Ala
NM_133378.4:c.41659A>G (TTN)	NP_596869.4:p.Thr13887Ala
NM_133432.3:c.22543A>G (TTN)	NP_597676.3:p.Thr7515Ala
NM_133437.4:c.22744A>G (TTN)	NP_597681.4:p.Thr7582Ala
NR_038271.1:n.783-115T>C (TTN-AS1)
XM_011511729.1:c.48460A>G (TTN)	XP_011510031.1:p.Thr16154Ala
XM_011511730.1:c.22354A>G (TTN)	XP_011510032.1:p.Thr7452Ala
XM_011511731.1:c.22213A>G (TTN)	XP_011510033.1:p.Thr7405Ala
XM_017004819.1:c.48256A>G (TTN)	XP_016860308.1:p.Thr16086Ala
XM_017004820.1:c.43654A>G (TTN)	XP_016860309.1:p.Thr14552Ala
XM_017004821.1:c.43651A>G (TTN)	XP_016860310.1:p.Thr14551Ala
XM_017004822.1:c.40693A>G (TTN)	XP_016860311.1:p.Thr13565Ala
XM_017004823.1:c.22309A>G (TTN)	XP_016860312.1:p.Thr7437Ala
XM_024453094.1:c.43804A>G (TTN)	XP_024308862.1:p.Thr14602Ala
XM_024453095.1:c.43801A>G (TTN)	XP_024308863.1:p.Thr14601Ala
XM_024453096.1:c.43234A>G (TTN)	XP_024308864.1:p.Thr14412Ala
XM_024453097.1:c.40576A>G (TTN)	XP_024308865.1:p.Thr13526Ala
XM_024453098.1:c.40495A>G (TTN)	XP_024308866.1:p.Thr13499Ala
XM_024453099.1:c.22258A>G (TTN)	XP_024308867.1:p.Thr7420Ala
XM_024453100.1:c.12112A>G (TTN)	XP_024308868.1:p.Thr4038Ala