Canonical Allele Identifier: CA1996322

Gene: TTN

Linked Data

• ClinVar Variation Id: 282657
• ClinVar RCV Id: RCV000377741 ; RCV000643061
• dbSNP Id: rs765821223
• ExAC: 2:179501436 G / A
• gnomAD v2: 2-179501436-G-A
• gnomAD v3: 2-178636709-G-A
• gnomAD v4: 2-178636709-G-A
• COSMIC: COSM324057 ; COSM324059 ; COSM324060
• MyVariant Identifiers: chr2:g.179501436G>A (hg19) ; chr2:g.178636709G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636709G>A , CM000664.2:g.178636709G>A	GRCh38
NC_000002.11:g.179501436G>A , CM000664.1:g.179501436G>A	GRCh37
NC_000002.10:g.179209681G>A	NCBI36
NG_011618.3:g.199094C>T , LRG_391:g.199094C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33314C>T	ENSP00000343764.6:p.Pro11105Leu
ENST00000342175.11:c.14399C>T	ENSP00000340554.6:p.Pro4800Leu
ENST00000359218.10:c.14198C>T	ENSP00000352154.5:p.Pro4733Leu
ENST00000342175.10:c.14399C>T	ENSP00000340554.6:p.Pro4800Leu
ENST00000342992.10:c.33314C>T	ENSP00000343764.6:p.Pro11105Leu
ENST00000359218.9:c.14198C>T	ENSP00000352154.5:p.Pro4733Leu
ENST00000460472.6:c.13823C>T	ENSP00000434586.1:p.Pro4608Leu
ENST00000589042.5:c.41018C>T MANE Select	ENSP00000467141.1:p.Pro13673Leu
ENST00000591111.5:c.36095C>T	ENSP00000465570.1:p.Pro12032Leu
ENST00000615779.4:c.36095C>T	ENSP00000483597.1:p.Pro12032Leu
NM_001256850.1:c.36095C>T	NP_001243779.1:p.Pro12032Leu
NM_001267550.2:c.41018C>T MANE Select	NP_001254479.2:p.Pro13673Leu
NM_003319.4:c.13823C>T	NP_003310.4:p.Pro4608Leu
NM_133378.4:c.33314C>T	NP_596869.4:p.Pro11105Leu
NM_133432.3:c.14198C>T	NP_597676.3:p.Pro4733Leu
NM_133437.4:c.14399C>T	NP_597681.4:p.Pro4800Leu
XM_011511729.1:c.40115C>T	XP_011510031.1:p.Pro13372Leu
XM_011511730.1:c.14009C>T	XP_011510032.1:p.Pro4670Leu
XM_011511731.1:c.13868C>T	XP_011510033.1:p.Pro4623Leu
XM_017004819.1:c.39911C>T	XP_016860308.1:p.Pro13304Leu
XM_017004820.1:c.35309C>T	XP_016860309.1:p.Pro11770Leu
XM_017004821.1:c.35306C>T	XP_016860310.1:p.Pro11769Leu
XM_017004822.1:c.32348C>T	XP_016860311.1:p.Pro10783Leu
XM_017004823.1:c.13964C>T	XP_016860312.1:p.Pro4655Leu
XM_024453094.1:c.35459C>T	XP_024308862.1:p.Pro11820Leu
XM_024453095.1:c.35456C>T	XP_024308863.1:p.Pro11819Leu
XM_024453096.1:c.34889C>T	XP_024308864.1:p.Pro11630Leu
XM_024453097.1:c.32231C>T	XP_024308865.1:p.Pro10744Leu
XM_024453098.1:c.32150C>T	XP_024308866.1:p.Pro10717Leu
XM_024453099.1:c.13913C>T	XP_024308867.1:p.Pro4638Leu
XM_024453100.1:c.3767C>T	XP_024308868.1:p.Pro1256Leu