Canonical Allele Identifier: CA349502813

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416398G>T (hg19) ; chr2:g.178551671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551671G>T , CM000664.2:g.178551671G>T	GRCh38
NC_000002.11:g.179416398G>T , CM000664.1:g.179416398G>T	GRCh37
NC_000002.10:g.179124644G>T	NCBI36
NG_011618.3:g.284132C>A , LRG_391:g.284132C>A
NG_051363.1:g.33845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83525C>A (TTN)	ENSP00000343764.6:p.Pro27842His
ENST00000342175.11:c.64610C>A (TTN)	ENSP00000340554.6:p.Pro21537His
ENST00000359218.10:c.64409C>A (TTN)	ENSP00000352154.5:p.Pro21470His
ENST00000342175.10:c.64610C>A (TTN)	ENSP00000340554.6:p.Pro21537His
ENST00000342992.10:c.83525C>A (TTN)	ENSP00000343764.6:p.Pro27842His
ENST00000359218.9:c.64409C>A (TTN)	ENSP00000352154.5:p.Pro21470His
ENST00000460472.6:c.64034C>A (TTN)	ENSP00000434586.1:p.Pro21345His
ENST00000589042.5:c.91229C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro30410His
ENST00000591111.5:c.86306C>A (TTN)	ENSP00000465570.1:p.Pro28769His
ENST00000615779.4:c.86306C>A (TTN)	ENSP00000483597.1:p.Pro28769His
NM_001256850.1:c.86306C>A (TTN)	NP_001243779.1:p.Pro28769His
NM_001267550.2:c.91229C>A (TTN) MANE Select	NP_001254479.2:p.Pro30410His
NM_003319.4:c.64034C>A (TTN)	NP_003310.4:p.Pro21345His
NM_133378.4:c.83525C>A (TTN)	NP_596869.4:p.Pro27842His
NM_133432.3:c.64409C>A (TTN)	NP_597676.3:p.Pro21470His
NM_133437.4:c.64610C>A (TTN)	NP_597681.4:p.Pro21537His
NR_038271.1:n.447-19629G>T (TTN-AS1)
NR_038272.1:n.2043+9310G>T (TTN-AS1)
XM_011511729.1:c.90326C>A (TTN)	XP_011510031.1:p.Pro30109His
XM_011511730.1:c.64220C>A (TTN)	XP_011510032.1:p.Pro21407His
XM_011511731.1:c.64079C>A (TTN)	XP_011510033.1:p.Pro21360His
XM_017004819.1:c.90122C>A (TTN)	XP_016860308.1:p.Pro30041His
XM_017004820.1:c.85520C>A (TTN)	XP_016860309.1:p.Pro28507His
XM_017004821.1:c.85517C>A (TTN)	XP_016860310.1:p.Pro28506His
XM_017004822.1:c.82559C>A (TTN)	XP_016860311.1:p.Pro27520His
XM_017004823.1:c.64175C>A (TTN)	XP_016860312.1:p.Pro21392His
XM_024453094.1:c.85670C>A (TTN)	XP_024308862.1:p.Pro28557His
XM_024453095.1:c.85667C>A (TTN)	XP_024308863.1:p.Pro28556His
XM_024453096.1:c.85100C>A (TTN)	XP_024308864.1:p.Pro28367His
XM_024453097.1:c.82442C>A (TTN)	XP_024308865.1:p.Pro27481His
XM_024453098.1:c.82361C>A (TTN)	XP_024308866.1:p.Pro27454His
XM_024453099.1:c.64124C>A (TTN)	XP_024308867.1:p.Pro21375His
XM_024453100.1:c.53978C>A (TTN)	XP_024308868.1:p.Pro17993His