Canonical Allele Identifier: CA349645129

Gene: TTN

Linked Data

• gnomAD v4: 2-178630246-A-T
• MyVariant Identifiers: chr2:g.179494973A>T (hg19) ; chr2:g.178630246A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630246A>T , CM000664.2:g.178630246A>T	GRCh38
NC_000002.11:g.179494973A>T , CM000664.1:g.179494973A>T	GRCh37
NC_000002.10:g.179203218A>T	NCBI36
NG_011618.3:g.205557T>A , LRG_391:g.205557T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36572T>A	ENSP00000343764.6:p.Val12191Asp
ENST00000342175.11:c.17657T>A	ENSP00000340554.6:p.Val5886Asp
ENST00000359218.10:c.17456T>A	ENSP00000352154.5:p.Val5819Asp
ENST00000342175.10:c.17657T>A	ENSP00000340554.6:p.Val5886Asp
ENST00000342992.10:c.36572T>A	ENSP00000343764.6:p.Val12191Asp
ENST00000359218.9:c.17456T>A	ENSP00000352154.5:p.Val5819Asp
ENST00000460472.6:c.17081T>A	ENSP00000434586.1:p.Val5694Asp
ENST00000589042.5:c.44276T>A MANE Select	ENSP00000467141.1:p.Val14759Asp
ENST00000591111.5:c.39353T>A	ENSP00000465570.1:p.Val13118Asp
ENST00000615779.4:c.39353T>A	ENSP00000483597.1:p.Val13118Asp
NM_001256850.1:c.39353T>A	NP_001243779.1:p.Val13118Asp
NM_001267550.2:c.44276T>A MANE Select	NP_001254479.2:p.Val14759Asp
NM_003319.4:c.17081T>A	NP_003310.4:p.Val5694Asp
NM_133378.4:c.36572T>A	NP_596869.4:p.Val12191Asp
NM_133432.3:c.17456T>A	NP_597676.3:p.Val5819Asp
NM_133437.4:c.17657T>A	NP_597681.4:p.Val5886Asp
XM_011511729.1:c.43373T>A	XP_011510031.1:p.Val14458Asp
XM_011511730.1:c.17267T>A	XP_011510032.1:p.Val5756Asp
XM_011511731.1:c.17126T>A	XP_011510033.1:p.Val5709Asp
XM_017004819.1:c.43169T>A	XP_016860308.1:p.Val14390Asp
XM_017004820.1:c.38567T>A	XP_016860309.1:p.Val12856Asp
XM_017004821.1:c.38564T>A	XP_016860310.1:p.Val12855Asp
XM_017004822.1:c.35606T>A	XP_016860311.1:p.Val11869Asp
XM_017004823.1:c.17222T>A	XP_016860312.1:p.Val5741Asp
XM_024453094.1:c.38717T>A	XP_024308862.1:p.Val12906Asp
XM_024453095.1:c.38714T>A	XP_024308863.1:p.Val12905Asp
XM_024453096.1:c.38147T>A	XP_024308864.1:p.Val12716Asp
XM_024453097.1:c.35489T>A	XP_024308865.1:p.Val11830Asp
XM_024453098.1:c.35408T>A	XP_024308866.1:p.Val11803Asp
XM_024453099.1:c.17171T>A	XP_024308867.1:p.Val5724Asp
XM_024453100.1:c.7025T>A	XP_024308868.1:p.Val2342Asp