Canonical Allele Identifier: CA1992243

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs532360660
• ExAC: 2:179454143 A / G
• gnomAD v2: 2-179454143-A-G
• gnomAD v3: 2-178589416-A-G
• gnomAD v4: 2-178589416-A-G
• MyVariant Identifiers: chr2:g.179454143A>G (hg19) ; chr2:g.178589416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589416A>G , CM000664.2:g.178589416A>G	GRCh38
NC_000002.11:g.179454143A>G , CM000664.1:g.179454143A>G	GRCh37
NC_000002.10:g.179162389A>G	NCBI36
NG_011618.3:g.246387T>C , LRG_391:g.246387T>C
NG_051363.1:g.71590A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54605T>C (TTN)	ENSP00000343764.6:p.Val18202Ala
ENST00000342175.11:c.35690T>C (TTN)	ENSP00000340554.6:p.Val11897Ala
ENST00000359218.10:c.35489T>C (TTN)	ENSP00000352154.5:p.Val11830Ala
ENST00000342175.10:c.35690T>C (TTN)	ENSP00000340554.6:p.Val11897Ala
ENST00000342992.10:c.54605T>C (TTN)	ENSP00000343764.6:p.Val18202Ala
ENST00000359218.9:c.35489T>C (TTN)	ENSP00000352154.5:p.Val11830Ala
ENST00000460472.6:c.35114T>C (TTN)	ENSP00000434586.1:p.Val11705Ala
ENST00000589042.5:c.62309T>C (TTN) MANE Select	ENSP00000467141.1:p.Val20770Ala
ENST00000591111.5:c.57386T>C (TTN)	ENSP00000465570.1:p.Val19129Ala
ENST00000615779.4:c.57386T>C (TTN)	ENSP00000483597.1:p.Val19129Ala
NM_001256850.1:c.57386T>C (TTN)	NP_001243779.1:p.Val19129Ala
NM_001267550.2:c.62309T>C (TTN) MANE Select	NP_001254479.2:p.Val20770Ala
NM_003319.4:c.35114T>C (TTN)	NP_003310.4:p.Val11705Ala
NM_133378.4:c.54605T>C (TTN)	NP_596869.4:p.Val18202Ala
NM_133432.3:c.35489T>C (TTN)	NP_597676.3:p.Val11830Ala
NM_133437.4:c.35690T>C (TTN)	NP_597681.4:p.Val11897Ala
NR_038271.1:n.597-8180A>G (TTN-AS1)
NR_038272.1:n.3189-1723A>G (TTN-AS1)
XM_011511729.1:c.61406T>C (TTN)	XP_011510031.1:p.Val20469Ala
XM_011511730.1:c.35300T>C (TTN)	XP_011510032.1:p.Val11767Ala
XM_011511731.1:c.35159T>C (TTN)	XP_011510033.1:p.Val11720Ala
XM_017004819.1:c.61202T>C (TTN)	XP_016860308.1:p.Val20401Ala
XM_017004820.1:c.56600T>C (TTN)	XP_016860309.1:p.Val18867Ala
XM_017004821.1:c.56597T>C (TTN)	XP_016860310.1:p.Val18866Ala
XM_017004822.1:c.53639T>C (TTN)	XP_016860311.1:p.Val17880Ala
XM_017004823.1:c.35255T>C (TTN)	XP_016860312.1:p.Val11752Ala
XM_024453094.1:c.56750T>C (TTN)	XP_024308862.1:p.Val18917Ala
XM_024453095.1:c.56747T>C (TTN)	XP_024308863.1:p.Val18916Ala
XM_024453096.1:c.56180T>C (TTN)	XP_024308864.1:p.Val18727Ala
XM_024453097.1:c.53522T>C (TTN)	XP_024308865.1:p.Val17841Ala
XM_024453098.1:c.53441T>C (TTN)	XP_024308866.1:p.Val17814Ala
XM_024453099.1:c.35204T>C (TTN)	XP_024308867.1:p.Val11735Ala
XM_024453100.1:c.25058T>C (TTN)	XP_024308868.1:p.Val8353Ala