Canonical Allele Identifier: CA349635720

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179486372T>G (hg19) ; chr2:g.178621645T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621645T>G , CM000664.2:g.178621645T>G	GRCh38
NC_000002.11:g.179486372T>G , CM000664.1:g.179486372T>G	GRCh37
NC_000002.10:g.179194617T>G	NCBI36
NG_011618.3:g.214158A>C , LRG_391:g.214158A>C
NG_051363.1:g.103819T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37475A>C	ENSP00000343764.6:p.Glu12492Ala
ENST00000342175.11:c.18560A>C	ENSP00000340554.6:p.Glu6187Ala
ENST00000359218.10:c.18359A>C	ENSP00000352154.5:p.Glu6120Ala
ENST00000342175.10:c.18560A>C	ENSP00000340554.6:p.Glu6187Ala
ENST00000342992.10:c.37475A>C	ENSP00000343764.6:p.Glu12492Ala
ENST00000359218.9:c.18359A>C	ENSP00000352154.5:p.Glu6120Ala
ENST00000460472.6:c.17984A>C	ENSP00000434586.1:p.Glu5995Ala
ENST00000589042.5:c.45179A>C MANE Select	ENSP00000467141.1:p.Glu15060Ala
ENST00000591111.5:c.40256A>C	ENSP00000465570.1:p.Glu13419Ala
ENST00000615779.4:c.40256A>C	ENSP00000483597.1:p.Glu13419Ala
NM_001256850.1:c.40256A>C	NP_001243779.1:p.Glu13419Ala
NM_001267550.2:c.45179A>C MANE Select	NP_001254479.2:p.Glu15060Ala
NM_003319.4:c.17984A>C	NP_003310.4:p.Glu5995Ala
NM_133378.4:c.37475A>C	NP_596869.4:p.Glu12492Ala
NM_133432.3:c.18359A>C	NP_597676.3:p.Glu6120Ala
NM_133437.4:c.18560A>C	NP_597681.4:p.Glu6187Ala
XM_011511729.1:c.44276A>C	XP_011510031.1:p.Glu14759Ala
XM_011511730.1:c.18170A>C	XP_011510032.1:p.Glu6057Ala
XM_011511731.1:c.18029A>C	XP_011510033.1:p.Glu6010Ala
XM_017004819.1:c.44072A>C	XP_016860308.1:p.Glu14691Ala
XM_017004820.1:c.39470A>C	XP_016860309.1:p.Glu13157Ala
XM_017004821.1:c.39467A>C	XP_016860310.1:p.Glu13156Ala
XM_017004822.1:c.36509A>C	XP_016860311.1:p.Glu12170Ala
XM_017004823.1:c.18125A>C	XP_016860312.1:p.Glu6042Ala
XM_024453094.1:c.39620A>C	XP_024308862.1:p.Glu13207Ala
XM_024453095.1:c.39617A>C	XP_024308863.1:p.Glu13206Ala
XM_024453096.1:c.39050A>C	XP_024308864.1:p.Glu13017Ala
XM_024453097.1:c.36392A>C	XP_024308865.1:p.Glu12131Ala
XM_024453098.1:c.36311A>C	XP_024308866.1:p.Glu12104Ala
XM_024453099.1:c.18074A>C	XP_024308867.1:p.Glu6025Ala
XM_024453100.1:c.7928A>C	XP_024308868.1:p.Glu2643Ala