Canonical Allele Identifier: CA349458122

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1696086052
• gnomAD v4: 2-178544474-C-T
• MyVariant Identifiers: chr2:g.179409201C>T (hg19) ; chr2:g.178544474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544474C>T , CM000664.2:g.178544474C>T	GRCh38
NC_000002.11:g.179409201C>T , CM000664.1:g.179409201C>T	GRCh37
NC_000002.10:g.179117447C>T	NCBI36
NG_011618.3:g.291329G>A , LRG_391:g.291329G>A
NG_051363.1:g.26648C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88051G>A (TTN)	ENSP00000343764.6:p.Val29351Met
ENST00000342175.11:c.69136G>A (TTN)	ENSP00000340554.6:p.Val23046Met
ENST00000359218.10:c.68935G>A (TTN)	ENSP00000352154.5:p.Val22979Met
ENST00000342175.10:c.69136G>A (TTN)	ENSP00000340554.6:p.Val23046Met
ENST00000342992.10:c.88051G>A (TTN)	ENSP00000343764.6:p.Val29351Met
ENST00000359218.9:c.68935G>A (TTN)	ENSP00000352154.5:p.Val22979Met
ENST00000460472.6:c.68560G>A (TTN)	ENSP00000434586.1:p.Val22854Met
ENST00000589042.5:c.95755G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31919Met
ENST00000591111.5:c.90832G>A (TTN)	ENSP00000465570.1:p.Val30278Met
ENST00000615779.4:c.90832G>A (TTN)	ENSP00000483597.1:p.Val30278Met
NM_001256850.1:c.90832G>A (TTN)	NP_001243779.1:p.Val30278Met
NM_001267550.2:c.95755G>A (TTN) MANE Select	NP_001254479.2:p.Val31919Met
NM_003319.4:c.68560G>A (TTN)	NP_003310.4:p.Val22854Met
NM_133378.4:c.88051G>A (TTN)	NP_596869.4:p.Val29351Met
NM_133432.3:c.68935G>A (TTN)	NP_597676.3:p.Val22979Met
NM_133437.4:c.69136G>A (TTN)	NP_597681.4:p.Val23046Met
NR_038271.1:n.446+20838C>T (TTN-AS1)
NR_038272.1:n.2043+2113C>T (TTN-AS1)
XM_011511729.1:c.94852G>A (TTN)	XP_011510031.1:p.Val31618Met
XM_011511730.1:c.68746G>A (TTN)	XP_011510032.1:p.Val22916Met
XM_011511731.1:c.68605G>A (TTN)	XP_011510033.1:p.Val22869Met
XM_017004819.1:c.94648G>A (TTN)	XP_016860308.1:p.Val31550Met
XM_017004820.1:c.90046G>A (TTN)	XP_016860309.1:p.Val30016Met
XM_017004821.1:c.90043G>A (TTN)	XP_016860310.1:p.Val30015Met
XM_017004822.1:c.87085G>A (TTN)	XP_016860311.1:p.Val29029Met
XM_017004823.1:c.68701G>A (TTN)	XP_016860312.1:p.Val22901Met
XM_024453094.1:c.90196G>A (TTN)	XP_024308862.1:p.Val30066Met
XM_024453095.1:c.90193G>A (TTN)	XP_024308863.1:p.Val30065Met
XM_024453096.1:c.89626G>A (TTN)	XP_024308864.1:p.Val29876Met
XM_024453097.1:c.86968G>A (TTN)	XP_024308865.1:p.Val28990Met
XM_024453098.1:c.86887G>A (TTN)	XP_024308866.1:p.Val28963Met
XM_024453099.1:c.68650G>A (TTN)	XP_024308867.1:p.Val22884Met
XM_024453100.1:c.58504G>A (TTN)	XP_024308868.1:p.Val19502Met