Canonical Allele Identifier: CA1985722

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1759457
• ClinVar RCV Id: RCV002393957
• dbSNP Id: rs763863092
• ExAC: 2:179398684 A / C
• gnomAD v2: 2-179398684-A-C
• gnomAD v3: 2-178533957-A-C
• gnomAD v4: 2-178533957-A-C
• MyVariant Identifiers: chr2:g.179398684A>C (hg19) ; chr2:g.178533957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533957A>C , CM000664.2:g.178533957A>C	GRCh38
NC_000002.11:g.179398684A>C , CM000664.1:g.179398684A>C	GRCh37
NC_000002.10:g.179106930A>C	NCBI36
NG_011618.3:g.301846T>G , LRG_391:g.301846T>G
NG_051363.1:g.16131A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94954T>G (TTN)	ENSP00000343764.6:p.Ser31652Ala
ENST00000342175.11:c.76039T>G (TTN)	ENSP00000340554.6:p.Ser25347Ala
ENST00000359218.10:c.75838T>G (TTN)	ENSP00000352154.5:p.Ser25280Ala
ENST00000342175.10:c.76039T>G (TTN)	ENSP00000340554.6:p.Ser25347Ala
ENST00000342992.10:c.94954T>G (TTN)	ENSP00000343764.6:p.Ser31652Ala
ENST00000359218.9:c.75838T>G (TTN)	ENSP00000352154.5:p.Ser25280Ala
ENST00000460472.6:c.75463T>G (TTN)	ENSP00000434586.1:p.Ser25155Ala
ENST00000589042.5:c.102658T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser34220Ala
ENST00000591111.5:c.97735T>G (TTN)	ENSP00000465570.1:p.Ser32579Ala
ENST00000615779.4:c.97735T>G (TTN)	ENSP00000483597.1:p.Ser32579Ala
NM_001256850.1:c.97735T>G (TTN)	NP_001243779.1:p.Ser32579Ala
NM_001267550.2:c.102658T>G (TTN) MANE Select	NP_001254479.2:p.Ser34220Ala
NM_003319.4:c.75463T>G (TTN)	NP_003310.4:p.Ser25155Ala
NM_133378.4:c.94954T>G (TTN)	NP_596869.4:p.Ser31652Ala
NM_133432.3:c.75838T>G (TTN)	NP_597676.3:p.Ser25280Ala
NM_133437.4:c.76039T>G (TTN)	NP_597681.4:p.Ser25347Ala
NR_038271.1:n.446+10321A>C (TTN-AS1)
NR_038272.1:n.220-1775A>C (TTN-AS1)
XM_011511729.1:c.101755T>G (TTN)	XP_011510031.1:p.Ser33919Ala
XM_011511730.1:c.75649T>G (TTN)	XP_011510032.1:p.Ser25217Ala
XM_011511731.1:c.75508T>G (TTN)	XP_011510033.1:p.Ser25170Ala
XM_017004819.1:c.101551T>G (TTN)	XP_016860308.1:p.Ser33851Ala
XM_017004820.1:c.96949T>G (TTN)	XP_016860309.1:p.Ser32317Ala
XM_017004821.1:c.96946T>G (TTN)	XP_016860310.1:p.Ser32316Ala
XM_017004822.1:c.93988T>G (TTN)	XP_016860311.1:p.Ser31330Ala
XM_017004823.1:c.75604T>G (TTN)	XP_016860312.1:p.Ser25202Ala
XM_024453094.1:c.97099T>G (TTN)	XP_024308862.1:p.Ser32367Ala
XM_024453095.1:c.97096T>G (TTN)	XP_024308863.1:p.Ser32366Ala
XM_024453096.1:c.96529T>G (TTN)	XP_024308864.1:p.Ser32177Ala
XM_024453097.1:c.93871T>G (TTN)	XP_024308865.1:p.Ser31291Ala
XM_024453098.1:c.93790T>G (TTN)	XP_024308866.1:p.Ser31264Ala
XM_024453099.1:c.75553T>G (TTN)	XP_024308867.1:p.Ser25185Ala
XM_024453100.1:c.65407T>G (TTN)	XP_024308868.1:p.Ser21803Ala