Canonical Allele Identifier: CA349651825

Gene: TTN

Linked Data

• ClinVar Variation Id: 2951831
• ClinVar RCV Id: RCV003812518
• MyVariant Identifiers: chr2:g.179497644C>T (hg19) ; chr2:g.178632917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632917C>T , CM000664.2:g.178632917C>T	GRCh38
NC_000002.11:g.179497644C>T , CM000664.1:g.179497644C>T	GRCh37
NC_000002.10:g.179205889C>T	NCBI36
NG_011618.3:g.202886G>A , LRG_391:g.202886G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.35509+1G>A	ENSP00000343764.6:n.35509+1G>A
ENST00000342175.11:c.16594+1G>A	ENSP00000340554.6:n.16594+1G>A
ENST00000359218.10:c.16393+1G>A	ENSP00000352154.5:n.16393+1G>A
ENST00000342175.10:c.16594+1G>A	ENSP00000340554.6:n.16594+1G>A
ENST00000342992.10:c.35509+1G>A	ENSP00000343764.6:n.35509+1G>A
ENST00000359218.9:c.16393+1G>A	ENSP00000352154.5:n.16393+1G>A
ENST00000460472.6:c.16018+1G>A	ENSP00000434586.1:n.16018+1G>A
ENST00000589042.5:c.43213+1G>A MANE Select	ENSP00000467141.1:n.43213+1G>A
ENST00000591111.5:c.38290+1G>A	ENSP00000465570.1:n.38290+1G>A
ENST00000615779.4:c.38290+1G>A	ENSP00000483597.1:n.38290+1G>A
NM_001256850.1:c.38290+1G>A	NP_001243779.1:n.38290+1G>A
NM_001267550.2:c.43213+1G>A MANE Select	NP_001254479.2:n.43213+1G>A
NM_003319.4:c.16018+1G>A	NP_003310.4:n.16018+1G>A
NM_133378.4:c.35509+1G>A	NP_596869.4:n.35509+1G>A
NM_133432.3:c.16393+1G>A	NP_597676.3:n.16393+1G>A
NM_133437.4:c.16594+1G>A	NP_597681.4:n.16594+1G>A
XM_011511729.1:c.42310+1G>A	XP_011510031.1:n.42310+1G>A
XM_011511730.1:c.16204+1G>A	XP_011510032.1:n.16204+1G>A
XM_011511731.1:c.16063+1G>A	XP_011510033.1:n.16063+1G>A
XM_017004819.1:c.42106+1G>A	XP_016860308.1:n.42106+1G>A
XM_017004820.1:c.37504+1G>A	XP_016860309.1:n.37504+1G>A
XM_017004821.1:c.37501+1G>A	XP_016860310.1:n.37501+1G>A
XM_017004822.1:c.34543+1G>A	XP_016860311.1:n.34543+1G>A
XM_017004823.1:c.16159+1G>A	XP_016860312.1:n.16159+1G>A
XM_024453094.1:c.37654+1G>A	XP_024308862.1:n.37654+1G>A
XM_024453095.1:c.37651+1G>A	XP_024308863.1:n.37651+1G>A
XM_024453096.1:c.37084+1G>A	XP_024308864.1:n.37084+1G>A
XM_024453097.1:c.34426+1G>A	XP_024308865.1:n.34426+1G>A
XM_024453098.1:c.34345+1G>A	XP_024308866.1:n.34345+1G>A
XM_024453099.1:c.16108+1G>A	XP_024308867.1:n.16108+1G>A
XM_024453100.1:c.5962+1G>A	XP_024308868.1:n.5962+1G>A