Canonical Allele Identifier: CA349472557

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411595T>A (hg19) ; chr2:g.178546868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546868T>A , CM000664.2:g.178546868T>A	GRCh38
NC_000002.11:g.179411595T>A , CM000664.1:g.179411595T>A	GRCh37
NC_000002.10:g.179119841T>A	NCBI36
NG_011618.3:g.288935A>T , LRG_391:g.288935A>T
NG_051363.1:g.29042T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86856A>T (TTN)	ENSP00000343764.6:p.Arg28952Ser
ENST00000342175.11:c.67941A>T (TTN)	ENSP00000340554.6:p.Arg22647Ser
ENST00000359218.10:c.67740A>T (TTN)	ENSP00000352154.5:p.Arg22580Ser
ENST00000342175.10:c.67941A>T (TTN)	ENSP00000340554.6:p.Arg22647Ser
ENST00000342992.10:c.86856A>T (TTN)	ENSP00000343764.6:p.Arg28952Ser
ENST00000359218.9:c.67740A>T (TTN)	ENSP00000352154.5:p.Arg22580Ser
ENST00000460472.6:c.67365A>T (TTN)	ENSP00000434586.1:p.Arg22455Ser
ENST00000589042.5:c.94560A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg31520Ser
ENST00000591111.5:c.89637A>T (TTN)	ENSP00000465570.1:p.Arg29879Ser
ENST00000615779.4:c.89637A>T (TTN)	ENSP00000483597.1:p.Arg29879Ser
NM_001256850.1:c.89637A>T (TTN)	NP_001243779.1:p.Arg29879Ser
NM_001267550.2:c.94560A>T (TTN) MANE Select	NP_001254479.2:p.Arg31520Ser
NM_003319.4:c.67365A>T (TTN)	NP_003310.4:p.Arg22455Ser
NM_133378.4:c.86856A>T (TTN)	NP_596869.4:p.Arg28952Ser
NM_133432.3:c.67740A>T (TTN)	NP_597676.3:p.Arg22580Ser
NM_133437.4:c.67941A>T (TTN)	NP_597681.4:p.Arg22647Ser
NR_038271.1:n.446+23232T>A (TTN-AS1)
NR_038272.1:n.2043+4507T>A (TTN-AS1)
XM_011511729.1:c.93657A>T (TTN)	XP_011510031.1:p.Arg31219Ser
XM_011511730.1:c.67551A>T (TTN)	XP_011510032.1:p.Arg22517Ser
XM_011511731.1:c.67410A>T (TTN)	XP_011510033.1:p.Arg22470Ser
XM_017004819.1:c.93453A>T (TTN)	XP_016860308.1:p.Arg31151Ser
XM_017004820.1:c.88851A>T (TTN)	XP_016860309.1:p.Arg29617Ser
XM_017004821.1:c.88848A>T (TTN)	XP_016860310.1:p.Arg29616Ser
XM_017004822.1:c.85890A>T (TTN)	XP_016860311.1:p.Arg28630Ser
XM_017004823.1:c.67506A>T (TTN)	XP_016860312.1:p.Arg22502Ser
XM_024453094.1:c.89001A>T (TTN)	XP_024308862.1:p.Arg29667Ser
XM_024453095.1:c.88998A>T (TTN)	XP_024308863.1:p.Arg29666Ser
XM_024453096.1:c.88431A>T (TTN)	XP_024308864.1:p.Arg29477Ser
XM_024453097.1:c.85773A>T (TTN)	XP_024308865.1:p.Arg28591Ser
XM_024453098.1:c.85692A>T (TTN)	XP_024308866.1:p.Arg28564Ser
XM_024453099.1:c.67455A>T (TTN)	XP_024308867.1:p.Arg22485Ser
XM_024453100.1:c.57309A>T (TTN)	XP_024308868.1:p.Arg19103Ser