Canonical Allele Identifier: CA349645116

Gene: TTN

Linked Data

• gnomAD v4: 2-178630244-T-C
• MyVariant Identifiers: chr2:g.179494971T>C (hg19) ; chr2:g.178630244T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630244T>C , CM000664.2:g.178630244T>C	GRCh38
NC_000002.11:g.179494971T>C , CM000664.1:g.179494971T>C	GRCh37
NC_000002.10:g.179203216T>C	NCBI36
NG_011618.3:g.205559A>G , LRG_391:g.205559A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36574A>G	ENSP00000343764.6:p.Lys12192Glu
ENST00000342175.11:c.17659A>G	ENSP00000340554.6:p.Lys5887Glu
ENST00000359218.10:c.17458A>G	ENSP00000352154.5:p.Lys5820Glu
ENST00000342175.10:c.17659A>G	ENSP00000340554.6:p.Lys5887Glu
ENST00000342992.10:c.36574A>G	ENSP00000343764.6:p.Lys12192Glu
ENST00000359218.9:c.17458A>G	ENSP00000352154.5:p.Lys5820Glu
ENST00000460472.6:c.17083A>G	ENSP00000434586.1:p.Lys5695Glu
ENST00000589042.5:c.44278A>G MANE Select	ENSP00000467141.1:p.Lys14760Glu
ENST00000591111.5:c.39355A>G	ENSP00000465570.1:p.Lys13119Glu
ENST00000615779.4:c.39355A>G	ENSP00000483597.1:p.Lys13119Glu
NM_001256850.1:c.39355A>G	NP_001243779.1:p.Lys13119Glu
NM_001267550.2:c.44278A>G MANE Select	NP_001254479.2:p.Lys14760Glu
NM_003319.4:c.17083A>G	NP_003310.4:p.Lys5695Glu
NM_133378.4:c.36574A>G	NP_596869.4:p.Lys12192Glu
NM_133432.3:c.17458A>G	NP_597676.3:p.Lys5820Glu
NM_133437.4:c.17659A>G	NP_597681.4:p.Lys5887Glu
XM_011511729.1:c.43375A>G	XP_011510031.1:p.Lys14459Glu
XM_011511730.1:c.17269A>G	XP_011510032.1:p.Lys5757Glu
XM_011511731.1:c.17128A>G	XP_011510033.1:p.Lys5710Glu
XM_017004819.1:c.43171A>G	XP_016860308.1:p.Lys14391Glu
XM_017004820.1:c.38569A>G	XP_016860309.1:p.Lys12857Glu
XM_017004821.1:c.38566A>G	XP_016860310.1:p.Lys12856Glu
XM_017004822.1:c.35608A>G	XP_016860311.1:p.Lys11870Glu
XM_017004823.1:c.17224A>G	XP_016860312.1:p.Lys5742Glu
XM_024453094.1:c.38719A>G	XP_024308862.1:p.Lys12907Glu
XM_024453095.1:c.38716A>G	XP_024308863.1:p.Lys12906Glu
XM_024453096.1:c.38149A>G	XP_024308864.1:p.Lys12717Glu
XM_024453097.1:c.35491A>G	XP_024308865.1:p.Lys11831Glu
XM_024453098.1:c.35410A>G	XP_024308866.1:p.Lys11804Glu
XM_024453099.1:c.17173A>G	XP_024308867.1:p.Lys5725Glu
XM_024453100.1:c.7027A>G	XP_024308868.1:p.Lys2343Glu