Canonical Allele Identifier: CA349427922

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402359G>T (hg19) ; chr2:g.178537632G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537632G>T , CM000664.2:g.178537632G>T	GRCh38
NC_000002.11:g.179402359G>T , CM000664.1:g.179402359G>T	GRCh37
NC_000002.10:g.179110605G>T	NCBI36
NG_011618.3:g.298171C>A , LRG_391:g.298171C>A
NG_051363.1:g.19806G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.91871C>A (TTN)	ENSP00000343764.6:p.Ala30624Glu
ENST00000342175.11:c.72956C>A (TTN)	ENSP00000340554.6:p.Ala24319Glu
ENST00000359218.10:c.72755C>A (TTN)	ENSP00000352154.5:p.Ala24252Glu
ENST00000342175.10:c.72956C>A (TTN)	ENSP00000340554.6:p.Ala24319Glu
ENST00000342992.10:c.91871C>A (TTN)	ENSP00000343764.6:p.Ala30624Glu
ENST00000359218.9:c.72755C>A (TTN)	ENSP00000352154.5:p.Ala24252Glu
ENST00000460472.6:c.72380C>A (TTN)	ENSP00000434586.1:p.Ala24127Glu
ENST00000589042.5:c.99575C>A (TTN) MANE Select	ENSP00000467141.1:p.Ala33192Glu
ENST00000591111.5:c.94652C>A (TTN)	ENSP00000465570.1:p.Ala31551Glu
ENST00000615779.4:c.94652C>A (TTN)	ENSP00000483597.1:p.Ala31551Glu
NM_001256850.1:c.94652C>A (TTN)	NP_001243779.1:p.Ala31551Glu
NM_001267550.2:c.99575C>A (TTN) MANE Select	NP_001254479.2:p.Ala33192Glu
NM_003319.4:c.72380C>A (TTN)	NP_003310.4:p.Ala24127Glu
NM_133378.4:c.91871C>A (TTN)	NP_596869.4:p.Ala30624Glu
NM_133432.3:c.72755C>A (TTN)	NP_597676.3:p.Ala24252Glu
NM_133437.4:c.72956C>A (TTN)	NP_597681.4:p.Ala24319Glu
NR_038271.1:n.446+13996G>T (TTN-AS1)
NR_038272.1:n.588G>T (TTN-AS1)
XM_011511729.1:c.98672C>A (TTN)	XP_011510031.1:p.Ala32891Glu
XM_011511730.1:c.72566C>A (TTN)	XP_011510032.1:p.Ala24189Glu
XM_011511731.1:c.72425C>A (TTN)	XP_011510033.1:p.Ala24142Glu
XM_017004819.1:c.98468C>A (TTN)	XP_016860308.1:p.Ala32823Glu
XM_017004820.1:c.93866C>A (TTN)	XP_016860309.1:p.Ala31289Glu
XM_017004821.1:c.93863C>A (TTN)	XP_016860310.1:p.Ala31288Glu
XM_017004822.1:c.90905C>A (TTN)	XP_016860311.1:p.Ala30302Glu
XM_017004823.1:c.72521C>A (TTN)	XP_016860312.1:p.Ala24174Glu
XM_024453094.1:c.94016C>A (TTN)	XP_024308862.1:p.Ala31339Glu
XM_024453095.1:c.94013C>A (TTN)	XP_024308863.1:p.Ala31338Glu
XM_024453096.1:c.93446C>A (TTN)	XP_024308864.1:p.Ala31149Glu
XM_024453097.1:c.90788C>A (TTN)	XP_024308865.1:p.Ala30263Glu
XM_024453098.1:c.90707C>A (TTN)	XP_024308866.1:p.Ala30236Glu
XM_024453099.1:c.72470C>A (TTN)	XP_024308867.1:p.Ala24157Glu
XM_024453100.1:c.62324C>A (TTN)	XP_024308868.1:p.Ala20775Glu