Canonical Allele Identifier: CA349661777

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179501443C>A (hg19) ; chr2:g.178636716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636716C>A , CM000664.2:g.178636716C>A	GRCh38
NC_000002.11:g.179501443C>A , CM000664.1:g.179501443C>A	GRCh37
NC_000002.10:g.179209688C>A	NCBI36
NG_011618.3:g.199087G>T , LRG_391:g.199087G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33307G>T	ENSP00000343764.6:p.Glu11103Ter
ENST00000342175.11:c.14392G>T	ENSP00000340554.6:p.Glu4798Ter
ENST00000359218.10:c.14191G>T	ENSP00000352154.5:p.Glu4731Ter
ENST00000342175.10:c.14392G>T	ENSP00000340554.6:p.Glu4798Ter
ENST00000342992.10:c.33307G>T	ENSP00000343764.6:p.Glu11103Ter
ENST00000359218.9:c.14191G>T	ENSP00000352154.5:p.Glu4731Ter
ENST00000460472.6:c.13816G>T	ENSP00000434586.1:p.Glu4606Ter
ENST00000589042.5:c.41011G>T MANE Select	ENSP00000467141.1:p.Glu13671Ter
ENST00000591111.5:c.36088G>T	ENSP00000465570.1:p.Glu12030Ter
ENST00000615779.4:c.36088G>T	ENSP00000483597.1:p.Glu12030Ter
NM_001256850.1:c.36088G>T	NP_001243779.1:p.Glu12030Ter
NM_001267550.2:c.41011G>T MANE Select	NP_001254479.2:p.Glu13671Ter
NM_003319.4:c.13816G>T	NP_003310.4:p.Glu4606Ter
NM_133378.4:c.33307G>T	NP_596869.4:p.Glu11103Ter
NM_133432.3:c.14191G>T	NP_597676.3:p.Glu4731Ter
NM_133437.4:c.14392G>T	NP_597681.4:p.Glu4798Ter
XM_011511729.1:c.40108G>T	XP_011510031.1:p.Glu13370Ter
XM_011511730.1:c.14002G>T	XP_011510032.1:p.Glu4668Ter
XM_011511731.1:c.13861G>T	XP_011510033.1:p.Glu4621Ter
XM_017004819.1:c.39904G>T	XP_016860308.1:p.Glu13302Ter
XM_017004820.1:c.35302G>T	XP_016860309.1:p.Glu11768Ter
XM_017004821.1:c.35299G>T	XP_016860310.1:p.Glu11767Ter
XM_017004822.1:c.32341G>T	XP_016860311.1:p.Glu10781Ter
XM_017004823.1:c.13957G>T	XP_016860312.1:p.Glu4653Ter
XM_024453094.1:c.35452G>T	XP_024308862.1:p.Glu11818Ter
XM_024453095.1:c.35449G>T	XP_024308863.1:p.Glu11817Ter
XM_024453096.1:c.34882G>T	XP_024308864.1:p.Glu11628Ter
XM_024453097.1:c.32224G>T	XP_024308865.1:p.Glu10742Ter
XM_024453098.1:c.32143G>T	XP_024308866.1:p.Glu10715Ter
XM_024453099.1:c.13906G>T	XP_024308867.1:p.Glu4636Ter
XM_024453100.1:c.3760G>T	XP_024308868.1:p.Glu1254Ter