Canonical Allele Identifier: CA349471651

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2672183
• ClinVar RCV Id: RCV003455879
• MyVariant Identifiers: chr2:g.179411507C>T (hg19) ; chr2:g.178546780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546780C>T , CM000664.2:g.178546780C>T	GRCh38
NC_000002.11:g.179411507C>T , CM000664.1:g.179411507C>T	GRCh37
NC_000002.10:g.179119753C>T	NCBI36
NG_011618.3:g.289023G>A , LRG_391:g.289023G>A
NG_051363.1:g.28954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86944G>A (TTN)	ENSP00000343764.6:p.Glu28982Lys
ENST00000342175.11:c.68029G>A (TTN)	ENSP00000340554.6:p.Glu22677Lys
ENST00000359218.10:c.67828G>A (TTN)	ENSP00000352154.5:p.Glu22610Lys
ENST00000342175.10:c.68029G>A (TTN)	ENSP00000340554.6:p.Glu22677Lys
ENST00000342992.10:c.86944G>A (TTN)	ENSP00000343764.6:p.Glu28982Lys
ENST00000359218.9:c.67828G>A (TTN)	ENSP00000352154.5:p.Glu22610Lys
ENST00000460472.6:c.67453G>A (TTN)	ENSP00000434586.1:p.Glu22485Lys
ENST00000589042.5:c.94648G>A (TTN) MANE Select	ENSP00000467141.1:p.Glu31550Lys
ENST00000591111.5:c.89725G>A (TTN)	ENSP00000465570.1:p.Glu29909Lys
ENST00000615779.4:c.89725G>A (TTN)	ENSP00000483597.1:p.Glu29909Lys
NM_001256850.1:c.89725G>A (TTN)	NP_001243779.1:p.Glu29909Lys
NM_001267550.2:c.94648G>A (TTN) MANE Select	NP_001254479.2:p.Glu31550Lys
NM_003319.4:c.67453G>A (TTN)	NP_003310.4:p.Glu22485Lys
NM_133378.4:c.86944G>A (TTN)	NP_596869.4:p.Glu28982Lys
NM_133432.3:c.67828G>A (TTN)	NP_597676.3:p.Glu22610Lys
NM_133437.4:c.68029G>A (TTN)	NP_597681.4:p.Glu22677Lys
NR_038271.1:n.446+23144C>T (TTN-AS1)
NR_038272.1:n.2043+4419C>T (TTN-AS1)
XM_011511729.1:c.93745G>A (TTN)	XP_011510031.1:p.Glu31249Lys
XM_011511730.1:c.67639G>A (TTN)	XP_011510032.1:p.Glu22547Lys
XM_011511731.1:c.67498G>A (TTN)	XP_011510033.1:p.Glu22500Lys
XM_017004819.1:c.93541G>A (TTN)	XP_016860308.1:p.Glu31181Lys
XM_017004820.1:c.88939G>A (TTN)	XP_016860309.1:p.Glu29647Lys
XM_017004821.1:c.88936G>A (TTN)	XP_016860310.1:p.Glu29646Lys
XM_017004822.1:c.85978G>A (TTN)	XP_016860311.1:p.Glu28660Lys
XM_017004823.1:c.67594G>A (TTN)	XP_016860312.1:p.Glu22532Lys
XM_024453094.1:c.89089G>A (TTN)	XP_024308862.1:p.Glu29697Lys
XM_024453095.1:c.89086G>A (TTN)	XP_024308863.1:p.Glu29696Lys
XM_024453096.1:c.88519G>A (TTN)	XP_024308864.1:p.Glu29507Lys
XM_024453097.1:c.85861G>A (TTN)	XP_024308865.1:p.Glu28621Lys
XM_024453098.1:c.85780G>A (TTN)	XP_024308866.1:p.Glu28594Lys
XM_024453099.1:c.67543G>A (TTN)	XP_024308867.1:p.Glu22515Lys
XM_024453100.1:c.57397G>A (TTN)	XP_024308868.1:p.Glu19133Lys