Canonical Allele Identifier: CA349568522

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427585A>C (hg19) ; chr2:g.178562858A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562858A>C , CM000664.2:g.178562858A>C	GRCh38
NC_000002.11:g.179427585A>C , CM000664.1:g.179427585A>C	GRCh37
NC_000002.10:g.179135831A>C	NCBI36
NG_011618.3:g.272945T>G , LRG_391:g.272945T>G
NG_051363.1:g.45032A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.75570T>G (TTN)	ENSP00000343764.6:p.Phe25190Leu
ENST00000342175.11:c.56655T>G (TTN)	ENSP00000340554.6:p.Phe18885Leu
ENST00000359218.10:c.56454T>G (TTN)	ENSP00000352154.5:p.Phe18818Leu
ENST00000342175.10:c.56655T>G (TTN)	ENSP00000340554.6:p.Phe18885Leu
ENST00000342992.10:c.75570T>G (TTN)	ENSP00000343764.6:p.Phe25190Leu
ENST00000359218.9:c.56454T>G (TTN)	ENSP00000352154.5:p.Phe18818Leu
ENST00000460472.6:c.56079T>G (TTN)	ENSP00000434586.1:p.Phe18693Leu
ENST00000589042.5:c.83274T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe27758Leu
ENST00000591111.5:c.78351T>G (TTN)	ENSP00000465570.1:p.Phe26117Leu
ENST00000615779.4:c.78351T>G (TTN)	ENSP00000483597.1:p.Phe26117Leu
NM_001256850.1:c.78351T>G (TTN)	NP_001243779.1:p.Phe26117Leu
NM_001267550.2:c.83274T>G (TTN) MANE Select	NP_001254479.2:p.Phe27758Leu
NM_003319.4:c.56079T>G (TTN)	NP_003310.4:p.Phe18693Leu
NM_133378.4:c.75570T>G (TTN)	NP_596869.4:p.Phe25190Leu
NM_133432.3:c.56454T>G (TTN)	NP_597676.3:p.Phe18818Leu
NM_133437.4:c.56655T>G (TTN)	NP_597681.4:p.Phe18885Leu
NR_038271.1:n.447-8442A>C (TTN-AS1)
NR_038272.1:n.2044-19714A>C (TTN-AS1)
XM_011511729.1:c.82371T>G (TTN)	XP_011510031.1:p.Phe27457Leu
XM_011511730.1:c.56265T>G (TTN)	XP_011510032.1:p.Phe18755Leu
XM_011511731.1:c.56124T>G (TTN)	XP_011510033.1:p.Phe18708Leu
XM_017004819.1:c.82167T>G (TTN)	XP_016860308.1:p.Phe27389Leu
XM_017004820.1:c.77565T>G (TTN)	XP_016860309.1:p.Phe25855Leu
XM_017004821.1:c.77562T>G (TTN)	XP_016860310.1:p.Phe25854Leu
XM_017004822.1:c.74604T>G (TTN)	XP_016860311.1:p.Phe24868Leu
XM_017004823.1:c.56220T>G (TTN)	XP_016860312.1:p.Phe18740Leu
XM_024453094.1:c.77715T>G (TTN)	XP_024308862.1:p.Phe25905Leu
XM_024453095.1:c.77712T>G (TTN)	XP_024308863.1:p.Phe25904Leu
XM_024453096.1:c.77145T>G (TTN)	XP_024308864.1:p.Phe25715Leu
XM_024453097.1:c.74487T>G (TTN)	XP_024308865.1:p.Phe24829Leu
XM_024453098.1:c.74406T>G (TTN)	XP_024308866.1:p.Phe24802Leu
XM_024453099.1:c.56169T>G (TTN)	XP_024308867.1:p.Phe18723Leu
XM_024453100.1:c.46023T>G (TTN)	XP_024308868.1:p.Phe15341Leu