Canonical Allele Identifier: CA430113570

Gene: TTN

Linked Data

• ClinVar Variation Id: 792446
• ClinVar RCV Id: RCV000975547
• dbSNP Id: rs1576665318
• gnomAD v4: 2-178630329-A-C
• MyVariant Identifiers: chr2:g.179495056A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630329A>C , CM000664.2:g.178630329A>C	GRCh38
NC_000002.11:g.179495056A>C , CM000664.1:g.179495056A>C	GRCh37
NC_000002.10:g.179203301A>C	NCBI36
NG_011618.3:g.205474T>G , LRG_391:g.205474T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36489T>G	ENSP00000343764.6:p.Leu12163=
ENST00000342175.11:c.17574T>G	ENSP00000340554.6:p.Leu5858=
ENST00000359218.10:c.17373T>G	ENSP00000352154.5:p.Leu5791=
ENST00000342175.10:c.17574T>G	ENSP00000340554.6:p.Leu5858=
ENST00000342992.10:c.36489T>G	ENSP00000343764.6:p.Leu12163=
ENST00000359218.9:c.17373T>G	ENSP00000352154.5:p.Leu5791=
ENST00000460472.6:c.16998T>G	ENSP00000434586.1:p.Leu5666=
ENST00000589042.5:c.44193T>G MANE Select	ENSP00000467141.1:p.Leu14731=
ENST00000591111.5:c.39270T>G	ENSP00000465570.1:p.Leu13090=
ENST00000615779.4:c.39270T>G	ENSP00000483597.1:p.Leu13090=
NM_001256850.1:c.39270T>G	NP_001243779.1:p.Leu13090=
NM_001267550.2:c.44193T>G MANE Select	NP_001254479.2:p.Leu14731=
NM_003319.4:c.16998T>G	NP_003310.4:p.Leu5666=
NM_133378.4:c.36489T>G	NP_596869.4:p.Leu12163=
NM_133432.3:c.17373T>G	NP_597676.3:p.Leu5791=
NM_133437.4:c.17574T>G	NP_597681.4:p.Leu5858=
XM_011511729.1:c.43290T>G	XP_011510031.1:p.Leu14430=
XM_011511730.1:c.17184T>G	XP_011510032.1:p.Leu5728=
XM_011511731.1:c.17043T>G	XP_011510033.1:p.Leu5681=
XM_017004819.1:c.43086T>G	XP_016860308.1:p.Leu14362=
XM_017004820.1:c.38484T>G	XP_016860309.1:p.Leu12828=
XM_017004821.1:c.38481T>G	XP_016860310.1:p.Leu12827=
XM_017004822.1:c.35523T>G	XP_016860311.1:p.Leu11841=
XM_017004823.1:c.17139T>G	XP_016860312.1:p.Leu5713=
XM_024453094.1:c.38634T>G	XP_024308862.1:p.Leu12878=
XM_024453095.1:c.38631T>G	XP_024308863.1:p.Leu12877=
XM_024453096.1:c.38064T>G	XP_024308864.1:p.Leu12688=
XM_024453097.1:c.35406T>G	XP_024308865.1:p.Leu11802=
XM_024453098.1:c.35325T>G	XP_024308866.1:p.Leu11775=
XM_024453099.1:c.17088T>G	XP_024308867.1:p.Leu5696=
XM_024453100.1:c.6942T>G	XP_024308868.1:p.Leu2314=