Canonical Allele Identifier: CA349471052

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411440G>A (hg19) ; chr2:g.178546713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546713G>A , CM000664.2:g.178546713G>A	GRCh38
NC_000002.11:g.179411440G>A , CM000664.1:g.179411440G>A	GRCh37
NC_000002.10:g.179119686G>A	NCBI36
NG_011618.3:g.289090C>T , LRG_391:g.289090C>T
NG_051363.1:g.28887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87011C>T (TTN)	ENSP00000343764.6:p.Thr29004Ile
ENST00000342175.11:c.68096C>T (TTN)	ENSP00000340554.6:p.Thr22699Ile
ENST00000359218.10:c.67895C>T (TTN)	ENSP00000352154.5:p.Thr22632Ile
ENST00000342175.10:c.68096C>T (TTN)	ENSP00000340554.6:p.Thr22699Ile
ENST00000342992.10:c.87011C>T (TTN)	ENSP00000343764.6:p.Thr29004Ile
ENST00000359218.9:c.67895C>T (TTN)	ENSP00000352154.5:p.Thr22632Ile
ENST00000460472.6:c.67520C>T (TTN)	ENSP00000434586.1:p.Thr22507Ile
ENST00000589042.5:c.94715C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr31572Ile
ENST00000591111.5:c.89792C>T (TTN)	ENSP00000465570.1:p.Thr29931Ile
ENST00000615779.4:c.89792C>T (TTN)	ENSP00000483597.1:p.Thr29931Ile
NM_001256850.1:c.89792C>T (TTN)	NP_001243779.1:p.Thr29931Ile
NM_001267550.2:c.94715C>T (TTN) MANE Select	NP_001254479.2:p.Thr31572Ile
NM_003319.4:c.67520C>T (TTN)	NP_003310.4:p.Thr22507Ile
NM_133378.4:c.87011C>T (TTN)	NP_596869.4:p.Thr29004Ile
NM_133432.3:c.67895C>T (TTN)	NP_597676.3:p.Thr22632Ile
NM_133437.4:c.68096C>T (TTN)	NP_597681.4:p.Thr22699Ile
NR_038271.1:n.446+23077G>A (TTN-AS1)
NR_038272.1:n.2043+4352G>A (TTN-AS1)
XM_011511729.1:c.93812C>T (TTN)	XP_011510031.1:p.Thr31271Ile
XM_011511730.1:c.67706C>T (TTN)	XP_011510032.1:p.Thr22569Ile
XM_011511731.1:c.67565C>T (TTN)	XP_011510033.1:p.Thr22522Ile
XM_017004819.1:c.93608C>T (TTN)	XP_016860308.1:p.Thr31203Ile
XM_017004820.1:c.89006C>T (TTN)	XP_016860309.1:p.Thr29669Ile
XM_017004821.1:c.89003C>T (TTN)	XP_016860310.1:p.Thr29668Ile
XM_017004822.1:c.86045C>T (TTN)	XP_016860311.1:p.Thr28682Ile
XM_017004823.1:c.67661C>T (TTN)	XP_016860312.1:p.Thr22554Ile
XM_024453094.1:c.89156C>T (TTN)	XP_024308862.1:p.Thr29719Ile
XM_024453095.1:c.89153C>T (TTN)	XP_024308863.1:p.Thr29718Ile
XM_024453096.1:c.88586C>T (TTN)	XP_024308864.1:p.Thr29529Ile
XM_024453097.1:c.85928C>T (TTN)	XP_024308865.1:p.Thr28643Ile
XM_024453098.1:c.85847C>T (TTN)	XP_024308866.1:p.Thr28616Ile
XM_024453099.1:c.67610C>T (TTN)	XP_024308867.1:p.Thr22537Ile
XM_024453100.1:c.57464C>T (TTN)	XP_024308868.1:p.Thr19155Ile