Canonical Allele Identifier: CA349632580

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535026
• ClinVar RCV Id: RCV000642783
• dbSNP Id: rs1553604869
• MyVariant Identifiers: chr2:g.179436221G>A (hg19) ; chr2:g.178571494G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178571494G>A , CM000664.2:g.178571494G>A	GRCh38
NC_000002.11:g.179436221G>A , CM000664.1:g.179436221G>A	GRCh37
NC_000002.10:g.179144467G>A	NCBI36
NG_011618.3:g.264309C>T , LRG_391:g.264309C>T
NG_051363.1:g.53668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.66934C>T (TTN)	ENSP00000343764.6:p.Gln22312Ter
ENST00000342175.11:c.48019C>T (TTN)	ENSP00000340554.6:p.Gln16007Ter
ENST00000359218.10:c.47818C>T (TTN)	ENSP00000352154.5:p.Gln15940Ter
ENST00000342175.10:c.48019C>T (TTN)	ENSP00000340554.6:p.Gln16007Ter
ENST00000342992.10:c.66934C>T (TTN)	ENSP00000343764.6:p.Gln22312Ter
ENST00000359218.9:c.47818C>T (TTN)	ENSP00000352154.5:p.Gln15940Ter
ENST00000460472.6:c.47443C>T (TTN)	ENSP00000434586.1:p.Gln15815Ter
ENST00000589042.5:c.74638C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln24880Ter
ENST00000591111.5:c.69715C>T (TTN)	ENSP00000465570.1:p.Gln23239Ter
ENST00000615779.4:c.69715C>T (TTN)	ENSP00000483597.1:p.Gln23239Ter
NM_001256850.1:c.69715C>T (TTN)	NP_001243779.1:p.Gln23239Ter
NM_001267550.2:c.74638C>T (TTN) MANE Select	NP_001254479.2:p.Gln24880Ter
NM_003319.4:c.47443C>T (TTN)	NP_003310.4:p.Gln15815Ter
NM_133378.4:c.66934C>T (TTN)	NP_596869.4:p.Gln22312Ter
NM_133432.3:c.47818C>T (TTN)	NP_597676.3:p.Gln15940Ter
NM_133437.4:c.48019C>T (TTN)	NP_597681.4:p.Gln16007Ter
NR_038271.1:n.596+45G>A (TTN-AS1)
NR_038272.1:n.2044-11078G>A (TTN-AS1)
XM_011511729.1:c.73735C>T (TTN)	XP_011510031.1:p.Gln24579Ter
XM_011511730.1:c.47629C>T (TTN)	XP_011510032.1:p.Gln15877Ter
XM_011511731.1:c.47488C>T (TTN)	XP_011510033.1:p.Gln15830Ter
XM_017004819.1:c.73531C>T (TTN)	XP_016860308.1:p.Gln24511Ter
XM_017004820.1:c.68929C>T (TTN)	XP_016860309.1:p.Gln22977Ter
XM_017004821.1:c.68926C>T (TTN)	XP_016860310.1:p.Gln22976Ter
XM_017004822.1:c.65968C>T (TTN)	XP_016860311.1:p.Gln21990Ter
XM_017004823.1:c.47584C>T (TTN)	XP_016860312.1:p.Gln15862Ter
XM_024453094.1:c.69079C>T (TTN)	XP_024308862.1:p.Gln23027Ter
XM_024453095.1:c.69076C>T (TTN)	XP_024308863.1:p.Gln23026Ter
XM_024453096.1:c.68509C>T (TTN)	XP_024308864.1:p.Gln22837Ter
XM_024453097.1:c.65851C>T (TTN)	XP_024308865.1:p.Gln21951Ter
XM_024453098.1:c.65770C>T (TTN)	XP_024308866.1:p.Gln21924Ter
XM_024453099.1:c.47533C>T (TTN)	XP_024308867.1:p.Gln15845Ter
XM_024453100.1:c.37387C>T (TTN)	XP_024308868.1:p.Gln12463Ter