Canonical Allele Identifier: CA349521643

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418830G>A (hg19) ; chr2:g.178554103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554103G>A , CM000664.2:g.178554103G>A	GRCh38
NC_000002.11:g.179418830G>A , CM000664.1:g.179418830G>A	GRCh37
NC_000002.10:g.179127076G>A	NCBI36
NG_011618.3:g.281700C>T , LRG_391:g.281700C>T
NG_051363.1:g.36277G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81304C>T (TTN)	ENSP00000343764.6:p.Leu27102Phe
ENST00000342175.11:c.62389C>T (TTN)	ENSP00000340554.6:p.Leu20797Phe
ENST00000359218.10:c.62188C>T (TTN)	ENSP00000352154.5:p.Leu20730Phe
ENST00000342175.10:c.62389C>T (TTN)	ENSP00000340554.6:p.Leu20797Phe
ENST00000342992.10:c.81304C>T (TTN)	ENSP00000343764.6:p.Leu27102Phe
ENST00000359218.9:c.62188C>T (TTN)	ENSP00000352154.5:p.Leu20730Phe
ENST00000460472.6:c.61813C>T (TTN)	ENSP00000434586.1:p.Leu20605Phe
ENST00000589042.5:c.89008C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu29670Phe
ENST00000591111.5:c.84085C>T (TTN)	ENSP00000465570.1:p.Leu28029Phe
ENST00000615779.4:c.84085C>T (TTN)	ENSP00000483597.1:p.Leu28029Phe
NM_001256850.1:c.84085C>T (TTN)	NP_001243779.1:p.Leu28029Phe
NM_001267550.2:c.89008C>T (TTN) MANE Select	NP_001254479.2:p.Leu29670Phe
NM_003319.4:c.61813C>T (TTN)	NP_003310.4:p.Leu20605Phe
NM_133378.4:c.81304C>T (TTN)	NP_596869.4:p.Leu27102Phe
NM_133432.3:c.62188C>T (TTN)	NP_597676.3:p.Leu20730Phe
NM_133437.4:c.62389C>T (TTN)	NP_597681.4:p.Leu20797Phe
NR_038271.1:n.447-17197G>A (TTN-AS1)
NR_038272.1:n.2043+11742G>A (TTN-AS1)
XM_011511729.1:c.88105C>T (TTN)	XP_011510031.1:p.Leu29369Phe
XM_011511730.1:c.61999C>T (TTN)	XP_011510032.1:p.Leu20667Phe
XM_011511731.1:c.61858C>T (TTN)	XP_011510033.1:p.Leu20620Phe
XM_017004819.1:c.87901C>T (TTN)	XP_016860308.1:p.Leu29301Phe
XM_017004820.1:c.83299C>T (TTN)	XP_016860309.1:p.Leu27767Phe
XM_017004821.1:c.83296C>T (TTN)	XP_016860310.1:p.Leu27766Phe
XM_017004822.1:c.80338C>T (TTN)	XP_016860311.1:p.Leu26780Phe
XM_017004823.1:c.61954C>T (TTN)	XP_016860312.1:p.Leu20652Phe
XM_024453094.1:c.83449C>T (TTN)	XP_024308862.1:p.Leu27817Phe
XM_024453095.1:c.83446C>T (TTN)	XP_024308863.1:p.Leu27816Phe
XM_024453096.1:c.82879C>T (TTN)	XP_024308864.1:p.Leu27627Phe
XM_024453097.1:c.80221C>T (TTN)	XP_024308865.1:p.Leu26741Phe
XM_024453098.1:c.80140C>T (TTN)	XP_024308866.1:p.Leu26714Phe
XM_024453099.1:c.61903C>T (TTN)	XP_024308867.1:p.Leu20635Phe
XM_024453100.1:c.51757C>T (TTN)	XP_024308868.1:p.Leu17253Phe