Canonical Allele Identifier: CA349612877

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433835A>C (hg19) ; chr2:g.178569108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569108A>C , CM000664.2:g.178569108A>C	GRCh38
NC_000002.11:g.179433835A>C , CM000664.1:g.179433835A>C	GRCh37
NC_000002.10:g.179142081A>C	NCBI36
NG_011618.3:g.266695T>G , LRG_391:g.266695T>G
NG_051363.1:g.51282A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69320T>G (TTN)	ENSP00000343764.6:p.Val23107Gly
ENST00000342175.11:c.50405T>G (TTN)	ENSP00000340554.6:p.Val16802Gly
ENST00000359218.10:c.50204T>G (TTN)	ENSP00000352154.5:p.Val16735Gly
ENST00000342175.10:c.50405T>G (TTN)	ENSP00000340554.6:p.Val16802Gly
ENST00000342992.10:c.69320T>G (TTN)	ENSP00000343764.6:p.Val23107Gly
ENST00000359218.9:c.50204T>G (TTN)	ENSP00000352154.5:p.Val16735Gly
ENST00000460472.6:c.49829T>G (TTN)	ENSP00000434586.1:p.Val16610Gly
ENST00000589042.5:c.77024T>G (TTN) MANE Select	ENSP00000467141.1:p.Val25675Gly
ENST00000591111.5:c.72101T>G (TTN)	ENSP00000465570.1:p.Val24034Gly
ENST00000615779.4:c.72101T>G (TTN)	ENSP00000483597.1:p.Val24034Gly
NM_001256850.1:c.72101T>G (TTN)	NP_001243779.1:p.Val24034Gly
NM_001267550.2:c.77024T>G (TTN) MANE Select	NP_001254479.2:p.Val25675Gly
NM_003319.4:c.49829T>G (TTN)	NP_003310.4:p.Val16610Gly
NM_133378.4:c.69320T>G (TTN)	NP_596869.4:p.Val23107Gly
NM_133432.3:c.50204T>G (TTN)	NP_597676.3:p.Val16735Gly
NM_133437.4:c.50405T>G (TTN)	NP_597681.4:p.Val16802Gly
NR_038271.1:n.447-2192A>C (TTN-AS1)
NR_038272.1:n.2044-13464A>C (TTN-AS1)
XM_011511729.1:c.76121T>G (TTN)	XP_011510031.1:p.Val25374Gly
XM_011511730.1:c.50015T>G (TTN)	XP_011510032.1:p.Val16672Gly
XM_011511731.1:c.49874T>G (TTN)	XP_011510033.1:p.Val16625Gly
XM_017004819.1:c.75917T>G (TTN)	XP_016860308.1:p.Val25306Gly
XM_017004820.1:c.71315T>G (TTN)	XP_016860309.1:p.Val23772Gly
XM_017004821.1:c.71312T>G (TTN)	XP_016860310.1:p.Val23771Gly
XM_017004822.1:c.68354T>G (TTN)	XP_016860311.1:p.Val22785Gly
XM_017004823.1:c.49970T>G (TTN)	XP_016860312.1:p.Val16657Gly
XM_024453094.1:c.71465T>G (TTN)	XP_024308862.1:p.Val23822Gly
XM_024453095.1:c.71462T>G (TTN)	XP_024308863.1:p.Val23821Gly
XM_024453096.1:c.70895T>G (TTN)	XP_024308864.1:p.Val23632Gly
XM_024453097.1:c.68237T>G (TTN)	XP_024308865.1:p.Val22746Gly
XM_024453098.1:c.68156T>G (TTN)	XP_024308866.1:p.Val22719Gly
XM_024453099.1:c.49919T>G (TTN)	XP_024308867.1:p.Val16640Gly
XM_024453100.1:c.39773T>G (TTN)	XP_024308868.1:p.Val13258Gly