Canonical Allele Identifier: CA1985433

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535257
• ClinVar RCV Id: RCV000643126
• dbSNP Id: rs551824963
• ExAC: 2:179396974 G / A
• gnomAD v2: 2-179396974-G-A
• gnomAD v3: 2-178532247-G-A
• gnomAD v4: 2-178532247-G-A
• MyVariant Identifiers: chr2:g.179396974G>A (hg19) ; chr2:g.178532247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532247G>A , CM000664.2:g.178532247G>A	GRCh38
NC_000002.11:g.179396974G>A , CM000664.1:g.179396974G>A	GRCh37
NC_000002.10:g.179105220G>A	NCBI36
NG_011618.3:g.303556C>T , LRG_391:g.303556C>T
NG_051363.1:g.14421G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96664C>T (TTN)	ENSP00000343764.6:p.Leu32222Phe
ENST00000342175.11:c.77749C>T (TTN)	ENSP00000340554.6:p.Leu25917Phe
ENST00000359218.10:c.77548C>T (TTN)	ENSP00000352154.5:p.Leu25850Phe
ENST00000342175.10:c.77749C>T (TTN)	ENSP00000340554.6:p.Leu25917Phe
ENST00000342992.10:c.96664C>T (TTN)	ENSP00000343764.6:p.Leu32222Phe
ENST00000359218.9:c.77548C>T (TTN)	ENSP00000352154.5:p.Leu25850Phe
ENST00000460472.6:c.77173C>T (TTN)	ENSP00000434586.1:p.Leu25725Phe
ENST00000589042.5:c.104368C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu34790Phe
ENST00000591111.5:c.99445C>T (TTN)	ENSP00000465570.1:p.Leu33149Phe
ENST00000615779.4:c.99445C>T (TTN)	ENSP00000483597.1:p.Leu33149Phe
NM_001256850.1:c.99445C>T (TTN)	NP_001243779.1:p.Leu33149Phe
NM_001267550.2:c.104368C>T (TTN) MANE Select	NP_001254479.2:p.Leu34790Phe
NM_003319.4:c.77173C>T (TTN)	NP_003310.4:p.Leu25725Phe
NM_133378.4:c.96664C>T (TTN)	NP_596869.4:p.Leu32222Phe
NM_133432.3:c.77548C>T (TTN)	NP_597676.3:p.Leu25850Phe
NM_133437.4:c.77749C>T (TTN)	NP_597681.4:p.Leu25917Phe
NR_038271.1:n.446+8611G>A (TTN-AS1)
NR_038272.1:n.220-3485G>A (TTN-AS1)
XM_011511729.1:c.103465C>T (TTN)	XP_011510031.1:p.Leu34489Phe
XM_011511730.1:c.77359C>T (TTN)	XP_011510032.1:p.Leu25787Phe
XM_011511731.1:c.77218C>T (TTN)	XP_011510033.1:p.Leu25740Phe
XM_017004819.1:c.103261C>T (TTN)	XP_016860308.1:p.Leu34421Phe
XM_017004820.1:c.98659C>T (TTN)	XP_016860309.1:p.Leu32887Phe
XM_017004821.1:c.98656C>T (TTN)	XP_016860310.1:p.Leu32886Phe
XM_017004822.1:c.95698C>T (TTN)	XP_016860311.1:p.Leu31900Phe
XM_017004823.1:c.77314C>T (TTN)	XP_016860312.1:p.Leu25772Phe
XM_024453094.1:c.98809C>T (TTN)	XP_024308862.1:p.Leu32937Phe
XM_024453095.1:c.98806C>T (TTN)	XP_024308863.1:p.Leu32936Phe
XM_024453096.1:c.98239C>T (TTN)	XP_024308864.1:p.Leu32747Phe
XM_024453097.1:c.95581C>T (TTN)	XP_024308865.1:p.Leu31861Phe
XM_024453098.1:c.95500C>T (TTN)	XP_024308866.1:p.Leu31834Phe
XM_024453099.1:c.77263C>T (TTN)	XP_024308867.1:p.Leu25755Phe
XM_024453100.1:c.67117C>T (TTN)	XP_024308868.1:p.Leu22373Phe