Canonical Allele Identifier: CA349640287

Gene: TTN

Linked Data

• gnomAD v4: 2-178624503-G-A
• MyVariant Identifiers: chr2:g.179489230G>A (hg19) ; chr2:g.178624503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624503G>A , CM000664.2:g.178624503G>A	GRCh38
NC_000002.11:g.179489230G>A , CM000664.1:g.179489230G>A	GRCh37
NC_000002.10:g.179197475G>A	NCBI36
NG_011618.3:g.211300C>T , LRG_391:g.211300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37073C>T	ENSP00000343764.6:p.Ala12358Val
ENST00000342175.11:c.18158C>T	ENSP00000340554.6:p.Ala6053Val
ENST00000359218.10:c.17957C>T	ENSP00000352154.5:p.Ala5986Val
ENST00000342175.10:c.18158C>T	ENSP00000340554.6:p.Ala6053Val
ENST00000342992.10:c.37073C>T	ENSP00000343764.6:p.Ala12358Val
ENST00000359218.9:c.17957C>T	ENSP00000352154.5:p.Ala5986Val
ENST00000460472.6:c.17582C>T	ENSP00000434586.1:p.Ala5861Val
ENST00000589042.5:c.44777C>T MANE Select	ENSP00000467141.1:p.Ala14926Val
ENST00000591111.5:c.39854C>T	ENSP00000465570.1:p.Ala13285Val
ENST00000615779.4:c.39854C>T	ENSP00000483597.1:p.Ala13285Val
NM_001256850.1:c.39854C>T	NP_001243779.1:p.Ala13285Val
NM_001267550.2:c.44777C>T MANE Select	NP_001254479.2:p.Ala14926Val
NM_003319.4:c.17582C>T	NP_003310.4:p.Ala5861Val
NM_133378.4:c.37073C>T	NP_596869.4:p.Ala12358Val
NM_133432.3:c.17957C>T	NP_597676.3:p.Ala5986Val
NM_133437.4:c.18158C>T	NP_597681.4:p.Ala6053Val
XM_011511729.1:c.43874C>T	XP_011510031.1:p.Ala14625Val
XM_011511730.1:c.17768C>T	XP_011510032.1:p.Ala5923Val
XM_011511731.1:c.17627C>T	XP_011510033.1:p.Ala5876Val
XM_017004819.1:c.43670C>T	XP_016860308.1:p.Ala14557Val
XM_017004820.1:c.39068C>T	XP_016860309.1:p.Ala13023Val
XM_017004821.1:c.39065C>T	XP_016860310.1:p.Ala13022Val
XM_017004822.1:c.36107C>T	XP_016860311.1:p.Ala12036Val
XM_017004823.1:c.17723C>T	XP_016860312.1:p.Ala5908Val
XM_024453094.1:c.39218C>T	XP_024308862.1:p.Ala13073Val
XM_024453095.1:c.39215C>T	XP_024308863.1:p.Ala13072Val
XM_024453096.1:c.38648C>T	XP_024308864.1:p.Ala12883Val
XM_024453097.1:c.35990C>T	XP_024308865.1:p.Ala11997Val
XM_024453098.1:c.35909C>T	XP_024308866.1:p.Ala11970Val
XM_024453099.1:c.17672C>T	XP_024308867.1:p.Ala5891Val
XM_024453100.1:c.7526C>T	XP_024308868.1:p.Ala2509Val