Canonical Allele Identifier: CA349411422

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396791T>G (hg19) ; chr2:g.178532064T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532064T>G , CM000664.2:g.178532064T>G	GRCh38
NC_000002.11:g.179396791T>G , CM000664.1:g.179396791T>G	GRCh37
NC_000002.10:g.179105037T>G	NCBI36
NG_011618.3:g.303739A>C , LRG_391:g.303739A>C
NG_051363.1:g.14238T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96847A>C (TTN)	ENSP00000343764.6:p.Met32283Leu
ENST00000342175.11:c.77932A>C (TTN)	ENSP00000340554.6:p.Met25978Leu
ENST00000359218.10:c.77731A>C (TTN)	ENSP00000352154.5:p.Met25911Leu
ENST00000342175.10:c.77932A>C (TTN)	ENSP00000340554.6:p.Met25978Leu
ENST00000342992.10:c.96847A>C (TTN)	ENSP00000343764.6:p.Met32283Leu
ENST00000359218.9:c.77731A>C (TTN)	ENSP00000352154.5:p.Met25911Leu
ENST00000460472.6:c.77356A>C (TTN)	ENSP00000434586.1:p.Met25786Leu
ENST00000589042.5:c.104551A>C (TTN) MANE Select	ENSP00000467141.1:p.Met34851Leu
ENST00000591111.5:c.99628A>C (TTN)	ENSP00000465570.1:p.Met33210Leu
ENST00000615779.4:c.99628A>C (TTN)	ENSP00000483597.1:p.Met33210Leu
NM_001256850.1:c.99628A>C (TTN)	NP_001243779.1:p.Met33210Leu
NM_001267550.2:c.104551A>C (TTN) MANE Select	NP_001254479.2:p.Met34851Leu
NM_003319.4:c.77356A>C (TTN)	NP_003310.4:p.Met25786Leu
NM_133378.4:c.96847A>C (TTN)	NP_596869.4:p.Met32283Leu
NM_133432.3:c.77731A>C (TTN)	NP_597676.3:p.Met25911Leu
NM_133437.4:c.77932A>C (TTN)	NP_597681.4:p.Met25978Leu
NR_038271.1:n.446+8428T>G (TTN-AS1)
NR_038272.1:n.220-3668T>G (TTN-AS1)
XM_011511729.1:c.103648A>C (TTN)	XP_011510031.1:p.Met34550Leu
XM_011511730.1:c.77542A>C (TTN)	XP_011510032.1:p.Met25848Leu
XM_011511731.1:c.77401A>C (TTN)	XP_011510033.1:p.Met25801Leu
XM_017004819.1:c.103444A>C (TTN)	XP_016860308.1:p.Met34482Leu
XM_017004820.1:c.98842A>C (TTN)	XP_016860309.1:p.Met32948Leu
XM_017004821.1:c.98839A>C (TTN)	XP_016860310.1:p.Met32947Leu
XM_017004822.1:c.95881A>C (TTN)	XP_016860311.1:p.Met31961Leu
XM_017004823.1:c.77497A>C (TTN)	XP_016860312.1:p.Met25833Leu
XM_024453094.1:c.98992A>C (TTN)	XP_024308862.1:p.Met32998Leu
XM_024453095.1:c.98989A>C (TTN)	XP_024308863.1:p.Met32997Leu
XM_024453096.1:c.98422A>C (TTN)	XP_024308864.1:p.Met32808Leu
XM_024453097.1:c.95764A>C (TTN)	XP_024308865.1:p.Met31922Leu
XM_024453098.1:c.95683A>C (TTN)	XP_024308866.1:p.Met31895Leu
XM_024453099.1:c.77446A>C (TTN)	XP_024308867.1:p.Met25816Leu
XM_024453100.1:c.67300A>C (TTN)	XP_024308868.1:p.Met22434Leu