Canonical Allele Identifier: CA349543455

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1312264246
• gnomAD v2: 2-179424377-G-T
• gnomAD v4: 2-178559650-G-T
• MyVariant Identifiers: chr2:g.179424377G>T (hg19) ; chr2:g.178559650G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559650G>T , CM000664.2:g.178559650G>T	GRCh38
NC_000002.11:g.179424377G>T , CM000664.1:g.179424377G>T	GRCh37
NC_000002.10:g.179132623G>T	NCBI36
NG_011618.3:g.276153C>A , LRG_391:g.276153C>A
NG_051363.1:g.41824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78778C>A (TTN)	ENSP00000343764.6:p.Gln26260Lys
ENST00000342175.11:c.59863C>A (TTN)	ENSP00000340554.6:p.Gln19955Lys
ENST00000359218.10:c.59662C>A (TTN)	ENSP00000352154.5:p.Gln19888Lys
ENST00000342175.10:c.59863C>A (TTN)	ENSP00000340554.6:p.Gln19955Lys
ENST00000342992.10:c.78778C>A (TTN)	ENSP00000343764.6:p.Gln26260Lys
ENST00000359218.9:c.59662C>A (TTN)	ENSP00000352154.5:p.Gln19888Lys
ENST00000460472.6:c.59287C>A (TTN)	ENSP00000434586.1:p.Gln19763Lys
ENST00000589042.5:c.86482C>A (TTN) MANE Select	ENSP00000467141.1:p.Gln28828Lys
ENST00000591111.5:c.81559C>A (TTN)	ENSP00000465570.1:p.Gln27187Lys
ENST00000615779.4:c.81559C>A (TTN)	ENSP00000483597.1:p.Gln27187Lys
NM_001256850.1:c.81559C>A (TTN)	NP_001243779.1:p.Gln27187Lys
NM_001267550.2:c.86482C>A (TTN) MANE Select	NP_001254479.2:p.Gln28828Lys
NM_003319.4:c.59287C>A (TTN)	NP_003310.4:p.Gln19763Lys
NM_133378.4:c.78778C>A (TTN)	NP_596869.4:p.Gln26260Lys
NM_133432.3:c.59662C>A (TTN)	NP_597676.3:p.Gln19888Lys
NM_133437.4:c.59863C>A (TTN)	NP_597681.4:p.Gln19955Lys
NR_038271.1:n.447-11650G>T (TTN-AS1)
NR_038272.1:n.2043+17289G>T (TTN-AS1)
XM_011511729.1:c.85579C>A (TTN)	XP_011510031.1:p.Gln28527Lys
XM_011511730.1:c.59473C>A (TTN)	XP_011510032.1:p.Gln19825Lys
XM_011511731.1:c.59332C>A (TTN)	XP_011510033.1:p.Gln19778Lys
XM_017004819.1:c.85375C>A (TTN)	XP_016860308.1:p.Gln28459Lys
XM_017004820.1:c.80773C>A (TTN)	XP_016860309.1:p.Gln26925Lys
XM_017004821.1:c.80770C>A (TTN)	XP_016860310.1:p.Gln26924Lys
XM_017004822.1:c.77812C>A (TTN)	XP_016860311.1:p.Gln25938Lys
XM_017004823.1:c.59428C>A (TTN)	XP_016860312.1:p.Gln19810Lys
XM_024453094.1:c.80923C>A (TTN)	XP_024308862.1:p.Gln26975Lys
XM_024453095.1:c.80920C>A (TTN)	XP_024308863.1:p.Gln26974Lys
XM_024453096.1:c.80353C>A (TTN)	XP_024308864.1:p.Gln26785Lys
XM_024453097.1:c.77695C>A (TTN)	XP_024308865.1:p.Gln25899Lys
XM_024453098.1:c.77614C>A (TTN)	XP_024308866.1:p.Gln25872Lys
XM_024453099.1:c.59377C>A (TTN)	XP_024308867.1:p.Gln19793Lys
XM_024453100.1:c.49231C>A (TTN)	XP_024308868.1:p.Gln16411Lys