Canonical Allele Identifier: CA139589

Gene: TTN

Linked Data

• ClinVar Variation Id: 46942
• ClinVar RCV Id: RCV000040212 ; RCV000457219 ; RCV000619122
• dbSNP Id: rs193191368
• ExAC: 2:179501444 A / G
• gnomAD v2: 2-179501444-A-G
• gnomAD v3: 2-178636717-A-G
• gnomAD v4: 2-178636717-A-G
• MyVariant Identifiers: chr2:g.179501444A>G (hg19) ; chr2:g.178636717A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636717A>G , CM000664.2:g.178636717A>G	GRCh38
NC_000002.11:g.179501444A>G , CM000664.1:g.179501444A>G	GRCh37
NC_000002.10:g.179209689A>G	NCBI36
NG_011618.3:g.199086T>C , LRG_391:g.199086T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33306T>C	ENSP00000343764.6:p.Asp11102=
ENST00000342175.11:c.14391T>C	ENSP00000340554.6:p.Asp4797=
ENST00000359218.10:c.14190T>C	ENSP00000352154.5:p.Asp4730=
ENST00000342175.10:c.14391T>C	ENSP00000340554.6:p.Asp4797=
ENST00000342992.10:c.33306T>C	ENSP00000343764.6:p.Asp11102=
ENST00000359218.9:c.14190T>C	ENSP00000352154.5:p.Asp4730=
ENST00000460472.6:c.13815T>C	ENSP00000434586.1:p.Asp4605=
ENST00000589042.5:c.41010T>C MANE Select	ENSP00000467141.1:p.Asp13670=
ENST00000591111.5:c.36087T>C	ENSP00000465570.1:p.Asp12029=
ENST00000615779.4:c.36087T>C	ENSP00000483597.1:p.Asp12029=
NM_001256850.1:c.36087T>C	NP_001243779.1:p.Asp12029=
NM_001267550.2:c.41010T>C MANE Select	NP_001254479.2:p.Asp13670=
NM_003319.4:c.13815T>C	NP_003310.4:p.Asp4605=
NM_133378.4:c.33306T>C	NP_596869.4:p.Asp11102=
NM_133432.3:c.14190T>C	NP_597676.3:p.Asp4730=
NM_133437.4:c.14391T>C	NP_597681.4:p.Asp4797=
XM_011511729.1:c.40107T>C	XP_011510031.1:p.Asp13369=
XM_011511730.1:c.14001T>C	XP_011510032.1:p.Asp4667=
XM_011511731.1:c.13860T>C	XP_011510033.1:p.Asp4620=
XM_017004819.1:c.39903T>C	XP_016860308.1:p.Asp13301=
XM_017004820.1:c.35301T>C	XP_016860309.1:p.Asp11767=
XM_017004821.1:c.35298T>C	XP_016860310.1:p.Asp11766=
XM_017004822.1:c.32340T>C	XP_016860311.1:p.Asp10780=
XM_017004823.1:c.13956T>C	XP_016860312.1:p.Asp4652=
XM_024453094.1:c.35451T>C	XP_024308862.1:p.Asp11817=
XM_024453095.1:c.35448T>C	XP_024308863.1:p.Asp11816=
XM_024453096.1:c.34881T>C	XP_024308864.1:p.Asp11627=
XM_024453097.1:c.32223T>C	XP_024308865.1:p.Asp10741=
XM_024453098.1:c.32142T>C	XP_024308866.1:p.Asp10714=
XM_024453099.1:c.13905T>C	XP_024308867.1:p.Asp4635=
XM_024453100.1:c.3759T>C	XP_024308868.1:p.Asp1253=