Canonical Allele Identifier: CA349652139

Gene: TTN

Linked Data

• dbSNP Id: rs1450926397
• gnomAD v3: 2-178632981-T-C
• gnomAD v4: 2-178632981-T-C
• MyVariant Identifiers: chr2:g.179497708T>C (hg19) ; chr2:g.178632981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178632981T>C , CM000664.2:g.178632981T>C	GRCh38
NC_000002.11:g.179497708T>C , CM000664.1:g.179497708T>C	GRCh37
NC_000002.10:g.179205953T>C	NCBI36
NG_011618.3:g.202822A>G , LRG_391:g.202822A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.35446A>G	ENSP00000343764.6:p.Met11816Val
ENST00000342175.11:c.16531A>G	ENSP00000340554.6:p.Met5511Val
ENST00000359218.10:c.16330A>G	ENSP00000352154.5:p.Met5444Val
ENST00000342175.10:c.16531A>G	ENSP00000340554.6:p.Met5511Val
ENST00000342992.10:c.35446A>G	ENSP00000343764.6:p.Met11816Val
ENST00000359218.9:c.16330A>G	ENSP00000352154.5:p.Met5444Val
ENST00000460472.6:c.15955A>G	ENSP00000434586.1:p.Met5319Val
ENST00000589042.5:c.43150A>G MANE Select	ENSP00000467141.1:p.Met14384Val
ENST00000591111.5:c.38227A>G	ENSP00000465570.1:p.Met12743Val
ENST00000615779.4:c.38227A>G	ENSP00000483597.1:p.Met12743Val
NM_001256850.1:c.38227A>G	NP_001243779.1:p.Met12743Val
NM_001267550.2:c.43150A>G MANE Select	NP_001254479.2:p.Met14384Val
NM_003319.4:c.15955A>G	NP_003310.4:p.Met5319Val
NM_133378.4:c.35446A>G	NP_596869.4:p.Met11816Val
NM_133432.3:c.16330A>G	NP_597676.3:p.Met5444Val
NM_133437.4:c.16531A>G	NP_597681.4:p.Met5511Val
XM_011511729.1:c.42247A>G	XP_011510031.1:p.Met14083Val
XM_011511730.1:c.16141A>G	XP_011510032.1:p.Met5381Val
XM_011511731.1:c.16000A>G	XP_011510033.1:p.Met5334Val
XM_017004819.1:c.42043A>G	XP_016860308.1:p.Met14015Val
XM_017004820.1:c.37441A>G	XP_016860309.1:p.Met12481Val
XM_017004821.1:c.37438A>G	XP_016860310.1:p.Met12480Val
XM_017004822.1:c.34480A>G	XP_016860311.1:p.Met11494Val
XM_017004823.1:c.16096A>G	XP_016860312.1:p.Met5366Val
XM_024453094.1:c.37591A>G	XP_024308862.1:p.Met12531Val
XM_024453095.1:c.37588A>G	XP_024308863.1:p.Met12530Val
XM_024453096.1:c.37021A>G	XP_024308864.1:p.Met12341Val
XM_024453097.1:c.34363A>G	XP_024308865.1:p.Met11455Val
XM_024453098.1:c.34282A>G	XP_024308866.1:p.Met11428Val
XM_024453099.1:c.16045A>G	XP_024308867.1:p.Met5349Val
XM_024453100.1:c.5899A>G	XP_024308868.1:p.Met1967Val