Canonical Allele Identifier: CA430252841

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179431923A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567196A>G , CM000664.2:g.178567196A>G	GRCh38
NC_000002.11:g.179431923A>G , CM000664.1:g.179431923A>G	GRCh37
NC_000002.10:g.179140169A>G	NCBI36
NG_011618.3:g.268607T>C , LRG_391:g.268607T>C
NG_051363.1:g.49370A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71232T>C (TTN)	ENSP00000343764.6:p.Leu23744=
ENST00000342175.11:c.52317T>C (TTN)	ENSP00000340554.6:p.Leu17439=
ENST00000359218.10:c.52116T>C (TTN)	ENSP00000352154.5:p.Leu17372=
ENST00000342175.10:c.52317T>C (TTN)	ENSP00000340554.6:p.Leu17439=
ENST00000342992.10:c.71232T>C (TTN)	ENSP00000343764.6:p.Leu23744=
ENST00000359218.9:c.52116T>C (TTN)	ENSP00000352154.5:p.Leu17372=
ENST00000460472.6:c.51741T>C (TTN)	ENSP00000434586.1:p.Leu17247=
ENST00000589042.5:c.78936T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu26312=
ENST00000591111.5:c.74013T>C (TTN)	ENSP00000465570.1:p.Leu24671=
ENST00000615779.4:c.74013T>C (TTN)	ENSP00000483597.1:p.Leu24671=
NM_001256850.1:c.74013T>C (TTN)	NP_001243779.1:p.Leu24671=
NM_001267550.2:c.78936T>C (TTN) MANE Select	NP_001254479.2:p.Leu26312=
NM_003319.4:c.51741T>C (TTN)	NP_003310.4:p.Leu17247=
NM_133378.4:c.71232T>C (TTN)	NP_596869.4:p.Leu23744=
NM_133432.3:c.52116T>C (TTN)	NP_597676.3:p.Leu17372=
NM_133437.4:c.52317T>C (TTN)	NP_597681.4:p.Leu17439=
NR_038271.1:n.447-4104A>G (TTN-AS1)
NR_038272.1:n.2044-15376A>G (TTN-AS1)
XM_011511729.1:c.78033T>C (TTN)	XP_011510031.1:p.Leu26011=
XM_011511730.1:c.51927T>C (TTN)	XP_011510032.1:p.Leu17309=
XM_011511731.1:c.51786T>C (TTN)	XP_011510033.1:p.Leu17262=
XM_017004819.1:c.77829T>C (TTN)	XP_016860308.1:p.Leu25943=
XM_017004820.1:c.73227T>C (TTN)	XP_016860309.1:p.Leu24409=
XM_017004821.1:c.73224T>C (TTN)	XP_016860310.1:p.Leu24408=
XM_017004822.1:c.70266T>C (TTN)	XP_016860311.1:p.Leu23422=
XM_017004823.1:c.51882T>C (TTN)	XP_016860312.1:p.Leu17294=
XM_024453094.1:c.73377T>C (TTN)	XP_024308862.1:p.Leu24459=
XM_024453095.1:c.73374T>C (TTN)	XP_024308863.1:p.Leu24458=
XM_024453096.1:c.72807T>C (TTN)	XP_024308864.1:p.Leu24269=
XM_024453097.1:c.70149T>C (TTN)	XP_024308865.1:p.Leu23383=
XM_024453098.1:c.70068T>C (TTN)	XP_024308866.1:p.Leu23356=
XM_024453099.1:c.51831T>C (TTN)	XP_024308867.1:p.Leu17277=
XM_024453100.1:c.41685T>C (TTN)	XP_024308868.1:p.Leu13895=