Canonical Allele Identifier: CA349656730

Gene: TTN

Linked Data

• gnomAD v4: 2-178635440-C-A
• MyVariant Identifiers: chr2:g.179500167C>A (hg19) ; chr2:g.178635440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178635440C>A , CM000664.2:g.178635440C>A	GRCh38
NC_000002.11:g.179500167C>A , CM000664.1:g.179500167C>A	GRCh37
NC_000002.10:g.179208412C>A	NCBI36
NG_011618.3:g.200363G>T , LRG_391:g.200363G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.34180G>T	ENSP00000343764.6:p.Glu11394Ter
ENST00000342175.11:c.15265G>T	ENSP00000340554.6:p.Glu5089Ter
ENST00000359218.10:c.15064G>T	ENSP00000352154.5:p.Glu5022Ter
ENST00000342175.10:c.15265G>T	ENSP00000340554.6:p.Glu5089Ter
ENST00000342992.10:c.34180G>T	ENSP00000343764.6:p.Glu11394Ter
ENST00000359218.9:c.15064G>T	ENSP00000352154.5:p.Glu5022Ter
ENST00000460472.6:c.14689G>T	ENSP00000434586.1:p.Glu4897Ter
ENST00000589042.5:c.41884G>T MANE Select	ENSP00000467141.1:p.Glu13962Ter
ENST00000591111.5:c.36961G>T	ENSP00000465570.1:p.Glu12321Ter
ENST00000615779.4:c.36961G>T	ENSP00000483597.1:p.Glu12321Ter
NM_001256850.1:c.36961G>T	NP_001243779.1:p.Glu12321Ter
NM_001267550.2:c.41884G>T MANE Select	NP_001254479.2:p.Glu13962Ter
NM_003319.4:c.14689G>T	NP_003310.4:p.Glu4897Ter
NM_133378.4:c.34180G>T	NP_596869.4:p.Glu11394Ter
NM_133432.3:c.15064G>T	NP_597676.3:p.Glu5022Ter
NM_133437.4:c.15265G>T	NP_597681.4:p.Glu5089Ter
XM_011511729.1:c.40981G>T	XP_011510031.1:p.Glu13661Ter
XM_011511730.1:c.14875G>T	XP_011510032.1:p.Glu4959Ter
XM_011511731.1:c.14734G>T	XP_011510033.1:p.Glu4912Ter
XM_017004819.1:c.40777G>T	XP_016860308.1:p.Glu13593Ter
XM_017004820.1:c.36175G>T	XP_016860309.1:p.Glu12059Ter
XM_017004821.1:c.36172G>T	XP_016860310.1:p.Glu12058Ter
XM_017004822.1:c.33214G>T	XP_016860311.1:p.Glu11072Ter
XM_017004823.1:c.14830G>T	XP_016860312.1:p.Glu4944Ter
XM_024453094.1:c.36325G>T	XP_024308862.1:p.Glu12109Ter
XM_024453095.1:c.36322G>T	XP_024308863.1:p.Glu12108Ter
XM_024453096.1:c.35755G>T	XP_024308864.1:p.Glu11919Ter
XM_024453097.1:c.33097G>T	XP_024308865.1:p.Glu11033Ter
XM_024453098.1:c.33016G>T	XP_024308866.1:p.Glu11006Ter
XM_024453099.1:c.14779G>T	XP_024308867.1:p.Glu4927Ter
XM_024453100.1:c.4633G>T	XP_024308868.1:p.Glu1545Ter