Canonical Allele Identifier: CA10576560

Gene: TTN

Linked Data

• ClinVar Variation Id: 229592
• ClinVar RCV Id: RCV000216233
• dbSNP Id: rs876658107
• gnomAD v4: 2-178740382-T-G
• MyVariant Identifiers: chr2:g.179605109T>G (hg19) ; chr2:g.178740382T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178740382T>G , CM000664.2:g.178740382T>G	GRCh38
NC_000002.11:g.179605109T>G , CM000664.1:g.179605109T>G	GRCh37
NC_000002.10:g.179313354T>G	NCBI36
NG_011618.3:g.95421A>C , LRG_391:g.95421A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10361-2022A>C	ENSP00000343764.6:n.10361-2022A>C
ENST00000342175.11:c.12338A>C	ENSP00000340554.6:p.Gln4113Pro
ENST00000359218.10:c.12137A>C	ENSP00000352154.5:p.Gln4046Pro
ENST00000342175.10:c.12338A>C	ENSP00000340554.6:p.Gln4113Pro
ENST00000342992.10:c.10361-2022A>C	ENSP00000343764.6:n.10361-2022A>C
ENST00000359218.9:c.12137A>C	ENSP00000352154.5:p.Gln4046Pro
ENST00000460472.6:c.11762A>C	ENSP00000434586.1:p.Gln3921Pro
ENST00000589042.5:c.12851A>C MANE Select	ENSP00000467141.1:p.Gln4284Pro
ENST00000591111.5:c.11900A>C	ENSP00000465570.1:p.Gln3967Pro
ENST00000615779.4:c.11900A>C	ENSP00000483597.1:p.Gln3967Pro
NM_001256850.1:c.11900A>C	NP_001243779.1:p.Gln3967Pro
NM_001267550.2:c.12851A>C MANE Select	NP_001254479.2:p.Gln4284Pro
NM_003319.4:c.11762A>C	NP_003310.4:p.Gln3921Pro
NM_133378.4:c.10361-2022A>C	NP_596869.4:n.10361-2022A>C
NM_133432.3:c.12137A>C	NP_597676.3:p.Gln4046Pro
NM_133437.4:c.12338A>C	NP_597681.4:p.Gln4113Pro
XM_011511729.1:c.11948A>C	XP_011510031.1:p.Gln3983Pro
XM_011511730.1:c.11948A>C	XP_011510032.1:p.Gln3983Pro
XM_011511731.1:c.11807A>C	XP_011510033.1:p.Gln3936Pro
XM_017004819.1:c.11903A>C	XP_016860308.1:p.Gln3968Pro
XM_017004820.1:c.10364-2022A>C	XP_016860309.1:n.10364-2022A>C
XM_017004821.1:c.10361-2022A>C	XP_016860310.1:n.10361-2022A>C
XM_017004822.1:c.11903A>C	XP_016860311.1:p.Gln3968Pro
XM_017004823.1:c.11903A>C	XP_016860312.1:p.Gln3968Pro
XM_024453094.1:c.11903A>C	XP_024308862.1:p.Gln3968Pro
XM_024453095.1:c.11903A>C	XP_024308863.1:p.Gln3968Pro
XM_024453096.1:c.11903A>C	XP_024308864.1:p.Gln3968Pro
XM_024453097.1:c.11903A>C	XP_024308865.1:p.Gln3968Pro
XM_024453098.1:c.11903A>C	XP_024308866.1:p.Gln3968Pro
XM_024453099.1:c.11903A>C	XP_024308867.1:p.Gln3968Pro