Canonical Allele Identifier: CA312130

Gene: TTN

Linked Data

• ClinVar Variation Id: 203354
• ClinVar RCV Id: RCV001704962
• dbSNP Id: rs374930292
• ExAC: 2:179575865 G / C
• gnomAD v2: 2-179575865-G-C
• gnomAD v3: 2-178711138-G-C
• gnomAD v4: 2-178711138-G-C
• MyVariant Identifiers: chr2:g.179575865G>C (hg19) ; chr2:g.178711138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178711138G>C , CM000664.2:g.178711138G>C	GRCh38
NC_000002.11:g.179575865G>C , CM000664.1:g.179575865G>C	GRCh37
NC_000002.10:g.179284110G>C	NCBI36
NG_011618.3:g.124665C>G , LRG_391:g.124665C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.24366C>G	ENSP00000343764.6:p.Ser8122Arg
ENST00000342175.11:c.13858+26944C>G	ENSP00000340554.6:n.13858+26944C>G
ENST00000359218.10:c.13657+26944C>G	ENSP00000352154.5:n.13657+26944C>G
ENST00000342175.10:c.13858+26944C>G	ENSP00000340554.6:n.13858+26944C>G
ENST00000342992.10:c.24366C>G	ENSP00000343764.6:p.Ser8122Arg
ENST00000359218.9:c.13657+26944C>G	ENSP00000352154.5:n.13657+26944C>G
ENST00000460472.6:c.13282+26944C>G	ENSP00000434586.1:n.13282+26944C>G
ENST00000589042.5:c.28098C>G MANE Select	ENSP00000467141.1:p.Ser9366Arg
ENST00000591111.5:c.27147C>G	ENSP00000465570.1:p.Ser9049Arg
ENST00000615779.4:c.27147C>G	ENSP00000483597.1:p.Ser9049Arg
NM_001256850.1:c.27147C>G	NP_001243779.1:p.Ser9049Arg
NM_001267550.2:c.28098C>G MANE Select	NP_001254479.2:p.Ser9366Arg
NM_003319.4:c.13282+26944C>G	NP_003310.4:n.13282+26944C>G
NM_133378.4:c.24366C>G	NP_596869.4:p.Ser8122Arg
NM_133432.3:c.13657+26944C>G	NP_597676.3:n.13657+26944C>G
NM_133437.4:c.13858+26944C>G	NP_597681.4:n.13858+26944C>G
XM_011511729.1:c.27195C>G	XP_011510031.1:p.Ser9065Arg
XM_011511730.1:c.13468+26944C>G	XP_011510032.1:n.13468+26944C>G
XM_011511731.1:c.13327+26944C>G	XP_011510033.1:n.13327+26944C>G
XM_017004819.1:c.27150C>G	XP_016860308.1:p.Ser9050Arg
XM_017004820.1:c.24369C>G	XP_016860309.1:p.Ser8123Arg
XM_017004821.1:c.24366C>G	XP_016860310.1:p.Ser8122Arg
XM_017004822.1:c.27150C>G	XP_016860311.1:p.Ser9050Arg
XM_017004823.1:c.13423+26944C>G	XP_016860312.1:n.13423+26944C>G
XM_024453094.1:c.27150C>G	XP_024308862.1:p.Ser9050Arg
XM_024453095.1:c.27150C>G	XP_024308863.1:p.Ser9050Arg
XM_024453096.1:c.27150C>G	XP_024308864.1:p.Ser9050Arg
XM_024453097.1:c.27150C>G	XP_024308865.1:p.Ser9050Arg
XM_024453098.1:c.27150C>G	XP_024308866.1:p.Ser9050Arg
XM_024453099.1:c.13423+26944C>G	XP_024308867.1:n.13423+26944C>G