Canonical Allele Identifier: CA349672200

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442733C>T (hg19) ; chr2:g.178578006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578006C>T , CM000664.2:g.178578006C>T	GRCh38
NC_000002.11:g.179442733C>T , CM000664.1:g.179442733C>T	GRCh37
NC_000002.10:g.179150979C>T	NCBI36
NG_011618.3:g.257797G>A , LRG_391:g.257797G>A
NG_051363.1:g.60180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60805G>A (TTN)	ENSP00000343764.6:p.Val20269Met
ENST00000342175.11:c.41890G>A (TTN)	ENSP00000340554.6:p.Val13964Met
ENST00000359218.10:c.41689G>A (TTN)	ENSP00000352154.5:p.Val13897Met
ENST00000342175.10:c.41890G>A (TTN)	ENSP00000340554.6:p.Val13964Met
ENST00000342992.10:c.60805G>A (TTN)	ENSP00000343764.6:p.Val20269Met
ENST00000359218.9:c.41689G>A (TTN)	ENSP00000352154.5:p.Val13897Met
ENST00000460472.6:c.41314G>A (TTN)	ENSP00000434586.1:p.Val13772Met
ENST00000589042.5:c.68509G>A (TTN) MANE Select	ENSP00000467141.1:p.Val22837Met
ENST00000591111.5:c.63586G>A (TTN)	ENSP00000465570.1:p.Val21196Met
ENST00000615779.4:c.63586G>A (TTN)	ENSP00000483597.1:p.Val21196Met
NM_001256850.1:c.63586G>A (TTN)	NP_001243779.1:p.Val21196Met
NM_001267550.2:c.68509G>A (TTN) MANE Select	NP_001254479.2:p.Val22837Met
NM_003319.4:c.41314G>A (TTN)	NP_003310.4:p.Val13772Met
NM_133378.4:c.60805G>A (TTN)	NP_596869.4:p.Val20269Met
NM_133432.3:c.41689G>A (TTN)	NP_597676.3:p.Val13897Met
NM_133437.4:c.41890G>A (TTN)	NP_597681.4:p.Val13964Met
NR_038271.1:n.596+6557C>T (TTN-AS1)
NR_038272.1:n.2044-4566C>T (TTN-AS1)
XM_011511729.1:c.67606G>A (TTN)	XP_011510031.1:p.Val22536Met
XM_011511730.1:c.41500G>A (TTN)	XP_011510032.1:p.Val13834Met
XM_011511731.1:c.41359G>A (TTN)	XP_011510033.1:p.Val13787Met
XM_017004819.1:c.67402G>A (TTN)	XP_016860308.1:p.Val22468Met
XM_017004820.1:c.62800G>A (TTN)	XP_016860309.1:p.Val20934Met
XM_017004821.1:c.62797G>A (TTN)	XP_016860310.1:p.Val20933Met
XM_017004822.1:c.59839G>A (TTN)	XP_016860311.1:p.Val19947Met
XM_017004823.1:c.41455G>A (TTN)	XP_016860312.1:p.Val13819Met
XM_024453094.1:c.62950G>A (TTN)	XP_024308862.1:p.Val20984Met
XM_024453095.1:c.62947G>A (TTN)	XP_024308863.1:p.Val20983Met
XM_024453096.1:c.62380G>A (TTN)	XP_024308864.1:p.Val20794Met
XM_024453097.1:c.59722G>A (TTN)	XP_024308865.1:p.Val19908Met
XM_024453098.1:c.59641G>A (TTN)	XP_024308866.1:p.Val19881Met
XM_024453099.1:c.41404G>A (TTN)	XP_024308867.1:p.Val13802Met
XM_024453100.1:c.31258G>A (TTN)	XP_024308868.1:p.Val10420Met