Canonical Allele Identifier: CA349495689

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs886038985
• gnomAD v2: 2-179414515-A-G
• gnomAD v4: 2-178549788-A-G
• MyVariant Identifiers: chr2:g.179414515A>G (hg19) ; chr2:g.178549788A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549788A>G , CM000664.2:g.178549788A>G	GRCh38
NC_000002.11:g.179414515A>G , CM000664.1:g.179414515A>G	GRCh37
NC_000002.10:g.179122761A>G	NCBI36
NG_011618.3:g.286015T>C , LRG_391:g.286015T>C
NG_051363.1:g.31962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84230T>C (TTN)	ENSP00000343764.6:p.Leu28077Pro
ENST00000342175.11:c.65315T>C (TTN)	ENSP00000340554.6:p.Leu21772Pro
ENST00000359218.10:c.65114T>C (TTN)	ENSP00000352154.5:p.Leu21705Pro
ENST00000342175.10:c.65315T>C (TTN)	ENSP00000340554.6:p.Leu21772Pro
ENST00000342992.10:c.84230T>C (TTN)	ENSP00000343764.6:p.Leu28077Pro
ENST00000359218.9:c.65114T>C (TTN)	ENSP00000352154.5:p.Leu21705Pro
ENST00000460472.6:c.64739T>C (TTN)	ENSP00000434586.1:p.Leu21580Pro
ENST00000589042.5:c.91934T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu30645Pro
ENST00000591111.5:c.87011T>C (TTN)	ENSP00000465570.1:p.Leu29004Pro
ENST00000615779.4:c.87011T>C (TTN)	ENSP00000483597.1:p.Leu29004Pro
NM_001256850.1:c.87011T>C (TTN)	NP_001243779.1:p.Leu29004Pro
NM_001267550.2:c.91934T>C (TTN) MANE Select	NP_001254479.2:p.Leu30645Pro
NM_003319.4:c.64739T>C (TTN)	NP_003310.4:p.Leu21580Pro
NM_133378.4:c.84230T>C (TTN)	NP_596869.4:p.Leu28077Pro
NM_133432.3:c.65114T>C (TTN)	NP_597676.3:p.Leu21705Pro
NM_133437.4:c.65315T>C (TTN)	NP_597681.4:p.Leu21772Pro
NR_038271.1:n.447-21512A>G (TTN-AS1)
NR_038272.1:n.2043+7427A>G (TTN-AS1)
XM_011511729.1:c.91031T>C (TTN)	XP_011510031.1:p.Leu30344Pro
XM_011511730.1:c.64925T>C (TTN)	XP_011510032.1:p.Leu21642Pro
XM_011511731.1:c.64784T>C (TTN)	XP_011510033.1:p.Leu21595Pro
XM_017004819.1:c.90827T>C (TTN)	XP_016860308.1:p.Leu30276Pro
XM_017004820.1:c.86225T>C (TTN)	XP_016860309.1:p.Leu28742Pro
XM_017004821.1:c.86222T>C (TTN)	XP_016860310.1:p.Leu28741Pro
XM_017004822.1:c.83264T>C (TTN)	XP_016860311.1:p.Leu27755Pro
XM_017004823.1:c.64880T>C (TTN)	XP_016860312.1:p.Leu21627Pro
XM_024453094.1:c.86375T>C (TTN)	XP_024308862.1:p.Leu28792Pro
XM_024453095.1:c.86372T>C (TTN)	XP_024308863.1:p.Leu28791Pro
XM_024453096.1:c.85805T>C (TTN)	XP_024308864.1:p.Leu28602Pro
XM_024453097.1:c.83147T>C (TTN)	XP_024308865.1:p.Leu27716Pro
XM_024453098.1:c.83066T>C (TTN)	XP_024308866.1:p.Leu27689Pro
XM_024453099.1:c.64829T>C (TTN)	XP_024308867.1:p.Leu21610Pro
XM_024453100.1:c.54683T>C (TTN)	XP_024308868.1:p.Leu18228Pro