Canonical Allele Identifier: CA538090452

Gene: TTN

Linked Data

• dbSNP Id: rs1275701477
• gnomAD v2: 2-179489049-T-A
• gnomAD v3: 2-178624322-T-A
• gnomAD v4: 2-178624322-T-A
• MyVariant Identifiers: chr2:g.179489049T>A (hg19) ; chr2:g.178624322T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624322T>A , CM000664.2:g.178624322T>A	GRCh38
NC_000002.11:g.179489049T>A , CM000664.1:g.179489049T>A	GRCh37
NC_000002.10:g.179197294T>A	NCBI36
NG_011618.3:g.211481A>T , LRG_391:g.211481A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37111+143A>T	ENSP00000343764.6:n.37111+143A>T
ENST00000342175.11:c.18196+143A>T	ENSP00000340554.6:n.18196+143A>T
ENST00000359218.10:c.17995+143A>T	ENSP00000352154.5:n.17995+143A>T
ENST00000342175.10:c.18196+143A>T	ENSP00000340554.6:n.18196+143A>T
ENST00000342992.10:c.37111+143A>T	ENSP00000343764.6:n.37111+143A>T
ENST00000359218.9:c.17995+143A>T	ENSP00000352154.5:n.17995+143A>T
ENST00000460472.6:c.17620+143A>T	ENSP00000434586.1:n.17620+143A>T
ENST00000589042.5:c.44815+143A>T MANE Select	ENSP00000467141.1:n.44815+143A>T
ENST00000591111.5:c.39892+143A>T	ENSP00000465570.1:n.39892+143A>T
ENST00000615779.4:c.39892+143A>T	ENSP00000483597.1:n.39892+143A>T
NM_001256850.1:c.39892+143A>T	NP_001243779.1:n.39892+143A>T
NM_001267550.2:c.44815+143A>T MANE Select	NP_001254479.2:n.44815+143A>T
NM_003319.4:c.17620+143A>T	NP_003310.4:n.17620+143A>T
NM_133378.4:c.37111+143A>T	NP_596869.4:n.37111+143A>T
NM_133432.3:c.17995+143A>T	NP_597676.3:n.17995+143A>T
NM_133437.4:c.18196+143A>T	NP_597681.4:n.18196+143A>T
XM_011511729.1:c.43912+143A>T	XP_011510031.1:n.43912+143A>T
XM_011511730.1:c.17806+143A>T	XP_011510032.1:n.17806+143A>T
XM_011511731.1:c.17665+143A>T	XP_011510033.1:n.17665+143A>T
XM_017004819.1:c.43708+143A>T	XP_016860308.1:n.43708+143A>T
XM_017004820.1:c.39106+143A>T	XP_016860309.1:n.39106+143A>T
XM_017004821.1:c.39103+143A>T	XP_016860310.1:n.39103+143A>T
XM_017004822.1:c.36145+143A>T	XP_016860311.1:n.36145+143A>T
XM_017004823.1:c.17761+143A>T	XP_016860312.1:n.17761+143A>T
XM_024453094.1:c.39256+143A>T	XP_024308862.1:n.39256+143A>T
XM_024453095.1:c.39253+143A>T	XP_024308863.1:n.39253+143A>T
XM_024453096.1:c.38686+143A>T	XP_024308864.1:n.38686+143A>T
XM_024453097.1:c.36028+143A>T	XP_024308865.1:n.36028+143A>T
XM_024453098.1:c.35947+143A>T	XP_024308866.1:n.35947+143A>T
XM_024453099.1:c.17710+143A>T	XP_024308867.1:n.17710+143A>T
XM_024453100.1:c.7564+143A>T	XP_024308868.1:n.7564+143A>T