Canonical Allele Identifier: CA349407025

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395237T>C (hg19) ; chr2:g.178530510T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530510T>C , CM000664.2:g.178530510T>C	GRCh38
NC_000002.11:g.179395237T>C , CM000664.1:g.179395237T>C	GRCh37
NC_000002.10:g.179103483T>C	NCBI36
NG_011618.3:g.305293A>G , LRG_391:g.305293A>G
NG_051363.1:g.12684T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98401A>G (TTN)	ENSP00000343764.6:p.Lys32801Glu
ENST00000342175.11:c.79486A>G (TTN)	ENSP00000340554.6:p.Lys26496Glu
ENST00000359218.10:c.79285A>G (TTN)	ENSP00000352154.5:p.Lys26429Glu
ENST00000342175.10:c.79486A>G (TTN)	ENSP00000340554.6:p.Lys26496Glu
ENST00000342992.10:c.98401A>G (TTN)	ENSP00000343764.6:p.Lys32801Glu
ENST00000359218.9:c.79285A>G (TTN)	ENSP00000352154.5:p.Lys26429Glu
ENST00000460472.6:c.78910A>G (TTN)	ENSP00000434586.1:p.Lys26304Glu
ENST00000589042.5:c.106105A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys35369Glu
ENST00000591111.5:c.101182A>G (TTN)	ENSP00000465570.1:p.Lys33728Glu
ENST00000615779.4:c.101182A>G (TTN)	ENSP00000483597.1:p.Lys33728Glu
NM_001256850.1:c.101182A>G (TTN)	NP_001243779.1:p.Lys33728Glu
NM_001267550.2:c.106105A>G (TTN) MANE Select	NP_001254479.2:p.Lys35369Glu
NM_003319.4:c.78910A>G (TTN)	NP_003310.4:p.Lys26304Glu
NM_133378.4:c.98401A>G (TTN)	NP_596869.4:p.Lys32801Glu
NM_133432.3:c.79285A>G (TTN)	NP_597676.3:p.Lys26429Glu
NM_133437.4:c.79486A>G (TTN)	NP_597681.4:p.Lys26496Glu
NR_038271.1:n.446+6874T>C (TTN-AS1)
NR_038272.1:n.220-5222T>C (TTN-AS1)
XM_011511729.1:c.105202A>G (TTN)	XP_011510031.1:p.Lys35068Glu
XM_011511730.1:c.79096A>G (TTN)	XP_011510032.1:p.Lys26366Glu
XM_011511731.1:c.78955A>G (TTN)	XP_011510033.1:p.Lys26319Glu
XM_017004819.1:c.104998A>G (TTN)	XP_016860308.1:p.Lys35000Glu
XM_017004820.1:c.100396A>G (TTN)	XP_016860309.1:p.Lys33466Glu
XM_017004821.1:c.100393A>G (TTN)	XP_016860310.1:p.Lys33465Glu
XM_017004822.1:c.97435A>G (TTN)	XP_016860311.1:p.Lys32479Glu
XM_017004823.1:c.79051A>G (TTN)	XP_016860312.1:p.Lys26351Glu
XM_024453094.1:c.100546A>G (TTN)	XP_024308862.1:p.Lys33516Glu
XM_024453095.1:c.100543A>G (TTN)	XP_024308863.1:p.Lys33515Glu
XM_024453096.1:c.99976A>G (TTN)	XP_024308864.1:p.Lys33326Glu
XM_024453097.1:c.97318A>G (TTN)	XP_024308865.1:p.Lys32440Glu
XM_024453098.1:c.97237A>G (TTN)	XP_024308866.1:p.Lys32413Glu
XM_024453099.1:c.79000A>G (TTN)	XP_024308867.1:p.Lys26334Glu
XM_024453100.1:c.68854A>G (TTN)	XP_024308868.1:p.Lys22952Glu