Canonical Allele Identifier: CA1986429

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2935289
• ClinVar RCV Id: RCV003790943
• dbSNP Id: rs768340647
• ExAC: 2:179404706 G / T
• gnomAD v2: 2-179404706-G-T
• gnomAD v3: 2-178539979-G-T
• gnomAD v4: 2-178539979-G-T
• MyVariant Identifiers: chr2:g.179404706G>T (hg19) ; chr2:g.178539979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539979G>T , CM000664.2:g.178539979G>T	GRCh38
NC_000002.11:g.179404706G>T , CM000664.1:g.179404706G>T	GRCh37
NC_000002.10:g.179112952G>T	NCBI36
NG_011618.3:g.295824C>A , LRG_391:g.295824C>A
NG_051363.1:g.22153G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.90395-13C>A (TTN)	ENSP00000343764.6:n.90395-13C>A
ENST00000342175.11:c.71480-13C>A (TTN)	ENSP00000340554.6:n.71480-13C>A
ENST00000359218.10:c.71279-13C>A (TTN)	ENSP00000352154.5:n.71279-13C>A
ENST00000342175.10:c.71480-13C>A (TTN)	ENSP00000340554.6:n.71480-13C>A
ENST00000342992.10:c.90395-13C>A (TTN)	ENSP00000343764.6:n.90395-13C>A
ENST00000359218.9:c.71279-13C>A (TTN)	ENSP00000352154.5:n.71279-13C>A
ENST00000460472.6:c.70904-13C>A (TTN)	ENSP00000434586.1:n.70904-13C>A
ENST00000589042.5:c.98099-13C>A (TTN) MANE Select	ENSP00000467141.1:n.98099-13C>A
ENST00000591111.5:c.93176-13C>A (TTN)	ENSP00000465570.1:n.93176-13C>A
ENST00000615779.4:c.93176-13C>A (TTN)	ENSP00000483597.1:n.93176-13C>A
NM_001256850.1:c.93176-13C>A (TTN)	NP_001243779.1:n.93176-13C>A
NM_001267550.2:c.98099-13C>A (TTN) MANE Select	NP_001254479.2:n.98099-13C>A
NM_003319.4:c.70904-13C>A (TTN)	NP_003310.4:n.70904-13C>A
NM_133378.4:c.90395-13C>A (TTN)	NP_596869.4:n.90395-13C>A
NM_133432.3:c.71279-13C>A (TTN)	NP_597676.3:n.71279-13C>A
NM_133437.4:c.71480-13C>A (TTN)	NP_597681.4:n.71480-13C>A
NR_038271.1:n.446+16343G>T (TTN-AS1)
NR_038272.1:n.1840+89G>T (TTN-AS1)
XM_011511729.1:c.97196-13C>A (TTN)	XP_011510031.1:n.97196-13C>A
XM_011511730.1:c.71090-13C>A (TTN)	XP_011510032.1:n.71090-13C>A
XM_011511731.1:c.70949-13C>A (TTN)	XP_011510033.1:n.70949-13C>A
XM_017004819.1:c.96992-13C>A (TTN)	XP_016860308.1:n.96992-13C>A
XM_017004820.1:c.92390-13C>A (TTN)	XP_016860309.1:n.92390-13C>A
XM_017004821.1:c.92387-13C>A (TTN)	XP_016860310.1:n.92387-13C>A
XM_017004822.1:c.89429-13C>A (TTN)	XP_016860311.1:n.89429-13C>A
XM_017004823.1:c.71045-13C>A (TTN)	XP_016860312.1:n.71045-13C>A
XM_024453094.1:c.92540-13C>A (TTN)	XP_024308862.1:n.92540-13C>A
XM_024453095.1:c.92537-13C>A (TTN)	XP_024308863.1:n.92537-13C>A
XM_024453096.1:c.91970-13C>A (TTN)	XP_024308864.1:n.91970-13C>A
XM_024453097.1:c.89312-13C>A (TTN)	XP_024308865.1:n.89312-13C>A
XM_024453098.1:c.89231-13C>A (TTN)	XP_024308866.1:n.89231-13C>A
XM_024453099.1:c.70994-13C>A (TTN)	XP_024308867.1:n.70994-13C>A
XM_024453100.1:c.60848-13C>A (TTN)	XP_024308868.1:n.60848-13C>A