Canonical Allele Identifier: CA1995701

Gene: TTN

Linked Data

• ClinVar Variation Id: 1565189
• ClinVar RCV Id: RCV002205186
• dbSNP Id: rs375646734
• ExAC: 2:179494952 A / C
• gnomAD v2: 2-179494952-A-C
• gnomAD v3: 2-178630225-A-C
• gnomAD v4: 2-178630225-A-C
• MyVariant Identifiers: chr2:g.179494952A>C (hg19) ; chr2:g.178630225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630225A>C , CM000664.2:g.178630225A>C	GRCh38
NC_000002.11:g.179494952A>C , CM000664.1:g.179494952A>C	GRCh37
NC_000002.10:g.179203197A>C	NCBI36
NG_011618.3:g.205578T>G , LRG_391:g.205578T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36577+16T>G	ENSP00000343764.6:n.36577+16T>G
ENST00000342175.11:c.17662+16T>G	ENSP00000340554.6:n.17662+16T>G
ENST00000359218.10:c.17461+16T>G	ENSP00000352154.5:n.17461+16T>G
ENST00000342175.10:c.17662+16T>G	ENSP00000340554.6:n.17662+16T>G
ENST00000342992.10:c.36577+16T>G	ENSP00000343764.6:n.36577+16T>G
ENST00000359218.9:c.17461+16T>G	ENSP00000352154.5:n.17461+16T>G
ENST00000460472.6:c.17086+16T>G	ENSP00000434586.1:n.17086+16T>G
ENST00000589042.5:c.44281+16T>G MANE Select	ENSP00000467141.1:n.44281+16T>G
ENST00000591111.5:c.39358+16T>G	ENSP00000465570.1:n.39358+16T>G
ENST00000615779.4:c.39358+16T>G	ENSP00000483597.1:n.39358+16T>G
NM_001256850.1:c.39358+16T>G	NP_001243779.1:n.39358+16T>G
NM_001267550.2:c.44281+16T>G MANE Select	NP_001254479.2:n.44281+16T>G
NM_003319.4:c.17086+16T>G	NP_003310.4:n.17086+16T>G
NM_133378.4:c.36577+16T>G	NP_596869.4:n.36577+16T>G
NM_133432.3:c.17461+16T>G	NP_597676.3:n.17461+16T>G
NM_133437.4:c.17662+16T>G	NP_597681.4:n.17662+16T>G
XM_011511729.1:c.43378+16T>G	XP_011510031.1:n.43378+16T>G
XM_011511730.1:c.17272+16T>G	XP_011510032.1:n.17272+16T>G
XM_011511731.1:c.17131+16T>G	XP_011510033.1:n.17131+16T>G
XM_017004819.1:c.43174+16T>G	XP_016860308.1:n.43174+16T>G
XM_017004820.1:c.38572+16T>G	XP_016860309.1:n.38572+16T>G
XM_017004821.1:c.38569+16T>G	XP_016860310.1:n.38569+16T>G
XM_017004822.1:c.35611+16T>G	XP_016860311.1:n.35611+16T>G
XM_017004823.1:c.17227+16T>G	XP_016860312.1:n.17227+16T>G
XM_024453094.1:c.38722+16T>G	XP_024308862.1:n.38722+16T>G
XM_024453095.1:c.38719+16T>G	XP_024308863.1:n.38719+16T>G
XM_024453096.1:c.38152+16T>G	XP_024308864.1:n.38152+16T>G
XM_024453097.1:c.35494+16T>G	XP_024308865.1:n.35494+16T>G
XM_024453098.1:c.35413+16T>G	XP_024308866.1:n.35413+16T>G
XM_024453099.1:c.17176+16T>G	XP_024308867.1:n.17176+16T>G
XM_024453100.1:c.7030+16T>G	XP_024308868.1:n.7030+16T>G