Canonical Allele Identifier: CA1995707

Gene: TTN

Linked Data

• dbSNP Id: rs766470098
• ExAC: 2:179494983 G / A
• gnomAD v2: 2-179494983-G-A
• gnomAD v4: 2-178630256-G-A
• MyVariant Identifiers: chr2:g.179494983G>A (hg19) ; chr2:g.178630256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630256G>A , CM000664.2:g.178630256G>A	GRCh38
NC_000002.11:g.179494983G>A , CM000664.1:g.179494983G>A	GRCh37
NC_000002.10:g.179203228G>A	NCBI36
NG_011618.3:g.205547C>T , LRG_391:g.205547C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36562C>T	ENSP00000343764.6:p.His12188Tyr
ENST00000342175.11:c.17647C>T	ENSP00000340554.6:p.His5883Tyr
ENST00000359218.10:c.17446C>T	ENSP00000352154.5:p.His5816Tyr
ENST00000342175.10:c.17647C>T	ENSP00000340554.6:p.His5883Tyr
ENST00000342992.10:c.36562C>T	ENSP00000343764.6:p.His12188Tyr
ENST00000359218.9:c.17446C>T	ENSP00000352154.5:p.His5816Tyr
ENST00000460472.6:c.17071C>T	ENSP00000434586.1:p.His5691Tyr
ENST00000589042.5:c.44266C>T MANE Select	ENSP00000467141.1:p.His14756Tyr
ENST00000591111.5:c.39343C>T	ENSP00000465570.1:p.His13115Tyr
ENST00000615779.4:c.39343C>T	ENSP00000483597.1:p.His13115Tyr
NM_001256850.1:c.39343C>T	NP_001243779.1:p.His13115Tyr
NM_001267550.2:c.44266C>T MANE Select	NP_001254479.2:p.His14756Tyr
NM_003319.4:c.17071C>T	NP_003310.4:p.His5691Tyr
NM_133378.4:c.36562C>T	NP_596869.4:p.His12188Tyr
NM_133432.3:c.17446C>T	NP_597676.3:p.His5816Tyr
NM_133437.4:c.17647C>T	NP_597681.4:p.His5883Tyr
XM_011511729.1:c.43363C>T	XP_011510031.1:p.His14455Tyr
XM_011511730.1:c.17257C>T	XP_011510032.1:p.His5753Tyr
XM_011511731.1:c.17116C>T	XP_011510033.1:p.His5706Tyr
XM_017004819.1:c.43159C>T	XP_016860308.1:p.His14387Tyr
XM_017004820.1:c.38557C>T	XP_016860309.1:p.His12853Tyr
XM_017004821.1:c.38554C>T	XP_016860310.1:p.His12852Tyr
XM_017004822.1:c.35596C>T	XP_016860311.1:p.His11866Tyr
XM_017004823.1:c.17212C>T	XP_016860312.1:p.His5738Tyr
XM_024453094.1:c.38707C>T	XP_024308862.1:p.His12903Tyr
XM_024453095.1:c.38704C>T	XP_024308863.1:p.His12902Tyr
XM_024453096.1:c.38137C>T	XP_024308864.1:p.His12713Tyr
XM_024453097.1:c.35479C>T	XP_024308865.1:p.His11827Tyr
XM_024453098.1:c.35398C>T	XP_024308866.1:p.His11800Tyr
XM_024453099.1:c.17161C>T	XP_024308867.1:p.His5721Tyr
XM_024453100.1:c.7015C>T	XP_024308868.1:p.His2339Tyr