Canonical Allele Identifier: CA349521628

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418827C>A (hg19) ; chr2:g.178554100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554100C>A , CM000664.2:g.178554100C>A	GRCh38
NC_000002.11:g.179418827C>A , CM000664.1:g.179418827C>A	GRCh37
NC_000002.10:g.179127073C>A	NCBI36
NG_011618.3:g.281703G>T , LRG_391:g.281703G>T
NG_051363.1:g.36274C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81307G>T (TTN)	ENSP00000343764.6:p.Glu27103Ter
ENST00000342175.11:c.62392G>T (TTN)	ENSP00000340554.6:p.Glu20798Ter
ENST00000359218.10:c.62191G>T (TTN)	ENSP00000352154.5:p.Glu20731Ter
ENST00000342175.10:c.62392G>T (TTN)	ENSP00000340554.6:p.Glu20798Ter
ENST00000342992.10:c.81307G>T (TTN)	ENSP00000343764.6:p.Glu27103Ter
ENST00000359218.9:c.62191G>T (TTN)	ENSP00000352154.5:p.Glu20731Ter
ENST00000460472.6:c.61816G>T (TTN)	ENSP00000434586.1:p.Glu20606Ter
ENST00000589042.5:c.89011G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu29671Ter
ENST00000591111.5:c.84088G>T (TTN)	ENSP00000465570.1:p.Glu28030Ter
ENST00000615779.4:c.84088G>T (TTN)	ENSP00000483597.1:p.Glu28030Ter
NM_001256850.1:c.84088G>T (TTN)	NP_001243779.1:p.Glu28030Ter
NM_001267550.2:c.89011G>T (TTN) MANE Select	NP_001254479.2:p.Glu29671Ter
NM_003319.4:c.61816G>T (TTN)	NP_003310.4:p.Glu20606Ter
NM_133378.4:c.81307G>T (TTN)	NP_596869.4:p.Glu27103Ter
NM_133432.3:c.62191G>T (TTN)	NP_597676.3:p.Glu20731Ter
NM_133437.4:c.62392G>T (TTN)	NP_597681.4:p.Glu20798Ter
NR_038271.1:n.447-17200C>A (TTN-AS1)
NR_038272.1:n.2043+11739C>A (TTN-AS1)
XM_011511729.1:c.88108G>T (TTN)	XP_011510031.1:p.Glu29370Ter
XM_011511730.1:c.62002G>T (TTN)	XP_011510032.1:p.Glu20668Ter
XM_011511731.1:c.61861G>T (TTN)	XP_011510033.1:p.Glu20621Ter
XM_017004819.1:c.87904G>T (TTN)	XP_016860308.1:p.Glu29302Ter
XM_017004820.1:c.83302G>T (TTN)	XP_016860309.1:p.Glu27768Ter
XM_017004821.1:c.83299G>T (TTN)	XP_016860310.1:p.Glu27767Ter
XM_017004822.1:c.80341G>T (TTN)	XP_016860311.1:p.Glu26781Ter
XM_017004823.1:c.61957G>T (TTN)	XP_016860312.1:p.Glu20653Ter
XM_024453094.1:c.83452G>T (TTN)	XP_024308862.1:p.Glu27818Ter
XM_024453095.1:c.83449G>T (TTN)	XP_024308863.1:p.Glu27817Ter
XM_024453096.1:c.82882G>T (TTN)	XP_024308864.1:p.Glu27628Ter
XM_024453097.1:c.80224G>T (TTN)	XP_024308865.1:p.Glu26742Ter
XM_024453098.1:c.80143G>T (TTN)	XP_024308866.1:p.Glu26715Ter
XM_024453099.1:c.61906G>T (TTN)	XP_024308867.1:p.Glu20636Ter
XM_024453100.1:c.51760G>T (TTN)	XP_024308868.1:p.Glu17254Ter