Canonical Allele Identifier: CA349619082

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482975C>G (hg19) ; chr2:g.178618248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618248C>G , CM000664.2:g.178618248C>G	GRCh38
NC_000002.11:g.179482975C>G , CM000664.1:g.179482975C>G	GRCh37
NC_000002.10:g.179191220C>G	NCBI36
NG_011618.3:g.217555G>C , LRG_391:g.217555G>C
NG_051363.1:g.100422C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.39506G>C (TTN)	ENSP00000343764.6:p.Arg13169Thr
ENST00000342175.11:c.20591G>C (TTN)	ENSP00000340554.6:p.Arg6864Thr
ENST00000359218.10:c.20390G>C (TTN)	ENSP00000352154.5:p.Arg6797Thr
ENST00000342175.10:c.20591G>C (TTN)	ENSP00000340554.6:p.Arg6864Thr
ENST00000342992.10:c.39506G>C (TTN)	ENSP00000343764.6:p.Arg13169Thr
ENST00000359218.9:c.20390G>C (TTN)	ENSP00000352154.5:p.Arg6797Thr
ENST00000460472.6:c.20015G>C (TTN)	ENSP00000434586.1:p.Arg6672Thr
ENST00000589042.5:c.47210G>C (TTN) MANE Select	ENSP00000467141.1:p.Arg15737Thr
ENST00000591111.5:c.42287G>C (TTN)	ENSP00000465570.1:p.Arg14096Thr
ENST00000615779.4:c.42287G>C (TTN)	ENSP00000483597.1:p.Arg14096Thr
NM_001256850.1:c.42287G>C (TTN)	NP_001243779.1:p.Arg14096Thr
NM_001267550.2:c.47210G>C (TTN) MANE Select	NP_001254479.2:p.Arg15737Thr
NM_003319.4:c.20015G>C (TTN)	NP_003310.4:p.Arg6672Thr
NM_133378.4:c.39506G>C (TTN)	NP_596869.4:p.Arg13169Thr
NM_133432.3:c.20390G>C (TTN)	NP_597676.3:p.Arg6797Thr
NM_133437.4:c.20591G>C (TTN)	NP_597681.4:p.Arg6864Thr
NR_038271.1:n.1605-1505C>G (TTN-AS1)
XM_011511729.1:c.46307G>C (TTN)	XP_011510031.1:p.Arg15436Thr
XM_011511730.1:c.20201G>C (TTN)	XP_011510032.1:p.Arg6734Thr
XM_011511731.1:c.20060G>C (TTN)	XP_011510033.1:p.Arg6687Thr
XM_017004819.1:c.46103G>C (TTN)	XP_016860308.1:p.Arg15368Thr
XM_017004820.1:c.41501G>C (TTN)	XP_016860309.1:p.Arg13834Thr
XM_017004821.1:c.41498G>C (TTN)	XP_016860310.1:p.Arg13833Thr
XM_017004822.1:c.38540G>C (TTN)	XP_016860311.1:p.Arg12847Thr
XM_017004823.1:c.20156G>C (TTN)	XP_016860312.1:p.Arg6719Thr
XM_024453094.1:c.41651G>C (TTN)	XP_024308862.1:p.Arg13884Thr
XM_024453095.1:c.41648G>C (TTN)	XP_024308863.1:p.Arg13883Thr
XM_024453096.1:c.41081G>C (TTN)	XP_024308864.1:p.Arg13694Thr
XM_024453097.1:c.38423G>C (TTN)	XP_024308865.1:p.Arg12808Thr
XM_024453098.1:c.38342G>C (TTN)	XP_024308866.1:p.Arg12781Thr
XM_024453099.1:c.20105G>C (TTN)	XP_024308867.1:p.Arg6702Thr
XM_024453100.1:c.9959G>C (TTN)	XP_024308868.1:p.Arg3320Thr