Canonical Allele Identifier: CA538435349

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1367774053
• gnomAD v2: 2-179441231-G-A
• gnomAD v4: 2-178576504-G-A
• MyVariant Identifiers: chr2:g.179441231G>A (hg19) ; chr2:g.178576504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178576504G>A , CM000664.2:g.178576504G>A	GRCh38
NC_000002.11:g.179441231G>A , CM000664.1:g.179441231G>A	GRCh37
NC_000002.10:g.179149477G>A	NCBI36
NG_011618.3:g.259299C>T , LRG_391:g.259299C>T
NG_051363.1:g.58678G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62011+25C>T (TTN)	ENSP00000343764.6:n.62011+25C>T
ENST00000342175.11:c.43096+25C>T (TTN)	ENSP00000340554.6:n.43096+25C>T
ENST00000359218.10:c.42895+25C>T (TTN)	ENSP00000352154.5:n.42895+25C>T
ENST00000342175.10:c.43096+25C>T (TTN)	ENSP00000340554.6:n.43096+25C>T
ENST00000342992.10:c.62011+25C>T (TTN)	ENSP00000343764.6:n.62011+25C>T
ENST00000359218.9:c.42895+25C>T (TTN)	ENSP00000352154.5:n.42895+25C>T
ENST00000460472.6:c.42520+25C>T (TTN)	ENSP00000434586.1:n.42520+25C>T
ENST00000589042.5:c.69715+25C>T (TTN) MANE Select	ENSP00000467141.1:n.69715+25C>T
ENST00000591111.5:c.64792+25C>T (TTN)	ENSP00000465570.1:n.64792+25C>T
ENST00000615779.4:c.64792+25C>T (TTN)	ENSP00000483597.1:n.64792+25C>T
NM_001256850.1:c.64792+25C>T (TTN)	NP_001243779.1:n.64792+25C>T
NM_001267550.2:c.69715+25C>T (TTN) MANE Select	NP_001254479.2:n.69715+25C>T
NM_003319.4:c.42520+25C>T (TTN)	NP_003310.4:n.42520+25C>T
NM_133378.4:c.62011+25C>T (TTN)	NP_596869.4:n.62011+25C>T
NM_133432.3:c.42895+25C>T (TTN)	NP_597676.3:n.42895+25C>T
NM_133437.4:c.43096+25C>T (TTN)	NP_597681.4:n.43096+25C>T
NR_038271.1:n.596+5055G>A (TTN-AS1)
NR_038272.1:n.2044-6068G>A (TTN-AS1)
XM_011511729.1:c.68812+25C>T (TTN)	XP_011510031.1:n.68812+25C>T
XM_011511730.1:c.42706+25C>T (TTN)	XP_011510032.1:n.42706+25C>T
XM_011511731.1:c.42565+25C>T (TTN)	XP_011510033.1:n.42565+25C>T
XM_017004819.1:c.68608+25C>T (TTN)	XP_016860308.1:n.68608+25C>T
XM_017004820.1:c.64006+25C>T (TTN)	XP_016860309.1:n.64006+25C>T
XM_017004821.1:c.64003+25C>T (TTN)	XP_016860310.1:n.64003+25C>T
XM_017004822.1:c.61045+25C>T (TTN)	XP_016860311.1:n.61045+25C>T
XM_017004823.1:c.42661+25C>T (TTN)	XP_016860312.1:n.42661+25C>T
XM_024453094.1:c.64156+25C>T (TTN)	XP_024308862.1:n.64156+25C>T
XM_024453095.1:c.64153+25C>T (TTN)	XP_024308863.1:n.64153+25C>T
XM_024453096.1:c.63586+25C>T (TTN)	XP_024308864.1:n.63586+25C>T
XM_024453097.1:c.60928+25C>T (TTN)	XP_024308865.1:n.60928+25C>T
XM_024453098.1:c.60847+25C>T (TTN)	XP_024308866.1:n.60847+25C>T
XM_024453099.1:c.42610+25C>T (TTN)	XP_024308867.1:n.42610+25C>T
XM_024453100.1:c.32464+25C>T (TTN)	XP_024308868.1:n.32464+25C>T