Canonical Allele Identifier: CA349602131

Gene: TTN

Linked Data

• dbSNP Id: rs1192234880
• gnomAD v2: 2-179602886-A-G
• gnomAD v4: 2-178738159-A-G
• MyVariant Identifiers: chr2:g.179602886A>G (hg19) ; chr2:g.178738159A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178738159A>G , CM000664.2:g.178738159A>G	GRCh38
NC_000002.11:g.179602886A>G , CM000664.1:g.179602886A>G	GRCh37
NC_000002.10:g.179311131A>G	NCBI36
NG_011618.3:g.97644T>C , LRG_391:g.97644T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.10562T>C	ENSP00000343764.6:p.Val3521Ala
ENST00000342175.11:c.13781T>C	ENSP00000340554.6:p.Val4594Ala
ENST00000359218.10:c.13580T>C	ENSP00000352154.5:p.Val4527Ala
ENST00000342175.10:c.13781T>C	ENSP00000340554.6:p.Val4594Ala
ENST00000342992.10:c.10562T>C	ENSP00000343764.6:p.Val3521Ala
ENST00000359218.9:c.13580T>C	ENSP00000352154.5:p.Val4527Ala
ENST00000460472.6:c.13205T>C	ENSP00000434586.1:p.Val4402Ala
ENST00000589042.5:c.14294T>C MANE Select	ENSP00000467141.1:p.Val4765Ala
ENST00000591111.5:c.13343T>C	ENSP00000465570.1:p.Val4448Ala
ENST00000615779.4:c.13343T>C	ENSP00000483597.1:p.Val4448Ala
NM_001256850.1:c.13343T>C	NP_001243779.1:p.Val4448Ala
NM_001267550.2:c.14294T>C MANE Select	NP_001254479.2:p.Val4765Ala
NM_003319.4:c.13205T>C	NP_003310.4:p.Val4402Ala
NM_133378.4:c.10562T>C	NP_596869.4:p.Val3521Ala
NM_133432.3:c.13580T>C	NP_597676.3:p.Val4527Ala
NM_133437.4:c.13781T>C	NP_597681.4:p.Val4594Ala
XM_011511729.1:c.13391T>C	XP_011510031.1:p.Val4464Ala
XM_011511730.1:c.13391T>C	XP_011510032.1:p.Val4464Ala
XM_011511731.1:c.13250T>C	XP_011510033.1:p.Val4417Ala
XM_017004819.1:c.13346T>C	XP_016860308.1:p.Val4449Ala
XM_017004820.1:c.10565T>C	XP_016860309.1:p.Val3522Ala
XM_017004821.1:c.10562T>C	XP_016860310.1:p.Val3521Ala
XM_017004822.1:c.13346T>C	XP_016860311.1:p.Val4449Ala
XM_017004823.1:c.13346T>C	XP_016860312.1:p.Val4449Ala
XM_024453094.1:c.13346T>C	XP_024308862.1:p.Val4449Ala
XM_024453095.1:c.13346T>C	XP_024308863.1:p.Val4449Ala
XM_024453096.1:c.13346T>C	XP_024308864.1:p.Val4449Ala
XM_024453097.1:c.13346T>C	XP_024308865.1:p.Val4449Ala
XM_024453098.1:c.13346T>C	XP_024308866.1:p.Val4449Ala
XM_024453099.1:c.13346T>C	XP_024308867.1:p.Val4449Ala