Canonical Allele Identifier: CA60996719

Gene: TTN

Linked Data

• ClinVar Variation Id: 516818
• ClinVar RCV Id: RCV002413765 ; RCV002528749
• dbSNP Id: rs879210476
• gnomAD v2: 2-179489232-A-G
• gnomAD v3: 2-178624505-A-G
• gnomAD v4: 2-178624505-A-G
• MyVariant Identifiers: chr2:g.179489232A>G (hg19) ; chr2:g.178624505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624505A>G , CM000664.2:g.178624505A>G	GRCh38
NC_000002.11:g.179489232A>G , CM000664.1:g.179489232A>G	GRCh37
NC_000002.10:g.179197477A>G	NCBI36
NG_011618.3:g.211298T>C , LRG_391:g.211298T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37071T>C	ENSP00000343764.6:p.Asp12357=
ENST00000342175.11:c.18156T>C	ENSP00000340554.6:p.Asp6052=
ENST00000359218.10:c.17955T>C	ENSP00000352154.5:p.Asp5985=
ENST00000342175.10:c.18156T>C	ENSP00000340554.6:p.Asp6052=
ENST00000342992.10:c.37071T>C	ENSP00000343764.6:p.Asp12357=
ENST00000359218.9:c.17955T>C	ENSP00000352154.5:p.Asp5985=
ENST00000460472.6:c.17580T>C	ENSP00000434586.1:p.Asp5860=
ENST00000589042.5:c.44775T>C MANE Select	ENSP00000467141.1:p.Asp14925=
ENST00000591111.5:c.39852T>C	ENSP00000465570.1:p.Asp13284=
ENST00000615779.4:c.39852T>C	ENSP00000483597.1:p.Asp13284=
NM_001256850.1:c.39852T>C	NP_001243779.1:p.Asp13284=
NM_001267550.2:c.44775T>C MANE Select	NP_001254479.2:p.Asp14925=
NM_003319.4:c.17580T>C	NP_003310.4:p.Asp5860=
NM_133378.4:c.37071T>C	NP_596869.4:p.Asp12357=
NM_133432.3:c.17955T>C	NP_597676.3:p.Asp5985=
NM_133437.4:c.18156T>C	NP_597681.4:p.Asp6052=
XM_011511729.1:c.43872T>C	XP_011510031.1:p.Asp14624=
XM_011511730.1:c.17766T>C	XP_011510032.1:p.Asp5922=
XM_011511731.1:c.17625T>C	XP_011510033.1:p.Asp5875=
XM_017004819.1:c.43668T>C	XP_016860308.1:p.Asp14556=
XM_017004820.1:c.39066T>C	XP_016860309.1:p.Asp13022=
XM_017004821.1:c.39063T>C	XP_016860310.1:p.Asp13021=
XM_017004822.1:c.36105T>C	XP_016860311.1:p.Asp12035=
XM_017004823.1:c.17721T>C	XP_016860312.1:p.Asp5907=
XM_024453094.1:c.39216T>C	XP_024308862.1:p.Asp13072=
XM_024453095.1:c.39213T>C	XP_024308863.1:p.Asp13071=
XM_024453096.1:c.38646T>C	XP_024308864.1:p.Asp12882=
XM_024453097.1:c.35988T>C	XP_024308865.1:p.Asp11996=
XM_024453098.1:c.35907T>C	XP_024308866.1:p.Asp11969=
XM_024453099.1:c.17670T>C	XP_024308867.1:p.Asp5890=
XM_024453100.1:c.7524T>C	XP_024308868.1:p.Asp2508=