Canonical Allele Identifier: CA349651828

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179497645C>A (hg19) ; chr2:g.178632918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632918C>A , CM000664.2:g.178632918C>A	GRCh38
NC_000002.11:g.179497645C>A , CM000664.1:g.179497645C>A	GRCh37
NC_000002.10:g.179205890C>A	NCBI36
NG_011618.3:g.202885G>T , LRG_391:g.202885G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.35509G>T	ENSP00000343764.6:p.Glu11837Ter
ENST00000342175.11:c.16594G>T	ENSP00000340554.6:p.Glu5532Ter
ENST00000359218.10:c.16393G>T	ENSP00000352154.5:p.Glu5465Ter
ENST00000342175.10:c.16594G>T	ENSP00000340554.6:p.Glu5532Ter
ENST00000342992.10:c.35509G>T	ENSP00000343764.6:p.Glu11837Ter
ENST00000359218.9:c.16393G>T	ENSP00000352154.5:p.Glu5465Ter
ENST00000460472.6:c.16018G>T	ENSP00000434586.1:p.Glu5340Ter
ENST00000589042.5:c.43213G>T MANE Select	ENSP00000467141.1:p.Glu14405Ter
ENST00000591111.5:c.38290G>T	ENSP00000465570.1:p.Glu12764Ter
ENST00000615779.4:c.38290G>T	ENSP00000483597.1:p.Glu12764Ter
NM_001256850.1:c.38290G>T	NP_001243779.1:p.Glu12764Ter
NM_001267550.2:c.43213G>T MANE Select	NP_001254479.2:p.Glu14405Ter
NM_003319.4:c.16018G>T	NP_003310.4:p.Glu5340Ter
NM_133378.4:c.35509G>T	NP_596869.4:p.Glu11837Ter
NM_133432.3:c.16393G>T	NP_597676.3:p.Glu5465Ter
NM_133437.4:c.16594G>T	NP_597681.4:p.Glu5532Ter
XM_011511729.1:c.42310G>T	XP_011510031.1:p.Glu14104Ter
XM_011511730.1:c.16204G>T	XP_011510032.1:p.Glu5402Ter
XM_011511731.1:c.16063G>T	XP_011510033.1:p.Glu5355Ter
XM_017004819.1:c.42106G>T	XP_016860308.1:p.Glu14036Ter
XM_017004820.1:c.37504G>T	XP_016860309.1:p.Glu12502Ter
XM_017004821.1:c.37501G>T	XP_016860310.1:p.Glu12501Ter
XM_017004822.1:c.34543G>T	XP_016860311.1:p.Glu11515Ter
XM_017004823.1:c.16159G>T	XP_016860312.1:p.Glu5387Ter
XM_024453094.1:c.37654G>T	XP_024308862.1:p.Glu12552Ter
XM_024453095.1:c.37651G>T	XP_024308863.1:p.Glu12551Ter
XM_024453096.1:c.37084G>T	XP_024308864.1:p.Glu12362Ter
XM_024453097.1:c.34426G>T	XP_024308865.1:p.Glu11476Ter
XM_024453098.1:c.34345G>T	XP_024308866.1:p.Glu11449Ter
XM_024453099.1:c.16108G>T	XP_024308867.1:p.Glu5370Ter
XM_024453100.1:c.5962G>T	XP_024308868.1:p.Glu1988Ter