Canonical Allele Identifier: CA349640271

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179489227T>C (hg19) ; chr2:g.178624500T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624500T>C , CM000664.2:g.178624500T>C	GRCh38
NC_000002.11:g.179489227T>C , CM000664.1:g.179489227T>C	GRCh37
NC_000002.10:g.179197472T>C	NCBI36
NG_011618.3:g.211303A>G , LRG_391:g.211303A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37076A>G	ENSP00000343764.6:p.Lys12359Arg
ENST00000342175.11:c.18161A>G	ENSP00000340554.6:p.Lys6054Arg
ENST00000359218.10:c.17960A>G	ENSP00000352154.5:p.Lys5987Arg
ENST00000342175.10:c.18161A>G	ENSP00000340554.6:p.Lys6054Arg
ENST00000342992.10:c.37076A>G	ENSP00000343764.6:p.Lys12359Arg
ENST00000359218.9:c.17960A>G	ENSP00000352154.5:p.Lys5987Arg
ENST00000460472.6:c.17585A>G	ENSP00000434586.1:p.Lys5862Arg
ENST00000589042.5:c.44780A>G MANE Select	ENSP00000467141.1:p.Lys14927Arg
ENST00000591111.5:c.39857A>G	ENSP00000465570.1:p.Lys13286Arg
ENST00000615779.4:c.39857A>G	ENSP00000483597.1:p.Lys13286Arg
NM_001256850.1:c.39857A>G	NP_001243779.1:p.Lys13286Arg
NM_001267550.2:c.44780A>G MANE Select	NP_001254479.2:p.Lys14927Arg
NM_003319.4:c.17585A>G	NP_003310.4:p.Lys5862Arg
NM_133378.4:c.37076A>G	NP_596869.4:p.Lys12359Arg
NM_133432.3:c.17960A>G	NP_597676.3:p.Lys5987Arg
NM_133437.4:c.18161A>G	NP_597681.4:p.Lys6054Arg
XM_011511729.1:c.43877A>G	XP_011510031.1:p.Lys14626Arg
XM_011511730.1:c.17771A>G	XP_011510032.1:p.Lys5924Arg
XM_011511731.1:c.17630A>G	XP_011510033.1:p.Lys5877Arg
XM_017004819.1:c.43673A>G	XP_016860308.1:p.Lys14558Arg
XM_017004820.1:c.39071A>G	XP_016860309.1:p.Lys13024Arg
XM_017004821.1:c.39068A>G	XP_016860310.1:p.Lys13023Arg
XM_017004822.1:c.36110A>G	XP_016860311.1:p.Lys12037Arg
XM_017004823.1:c.17726A>G	XP_016860312.1:p.Lys5909Arg
XM_024453094.1:c.39221A>G	XP_024308862.1:p.Lys13074Arg
XM_024453095.1:c.39218A>G	XP_024308863.1:p.Lys13073Arg
XM_024453096.1:c.38651A>G	XP_024308864.1:p.Lys12884Arg
XM_024453097.1:c.35993A>G	XP_024308865.1:p.Lys11998Arg
XM_024453098.1:c.35912A>G	XP_024308866.1:p.Lys11971Arg
XM_024453099.1:c.17675A>G	XP_024308867.1:p.Lys5892Arg
XM_024453100.1:c.7529A>G	XP_024308868.1:p.Lys2510Arg