Canonical Allele Identifier: CA349645119

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494971T>G (hg19) ; chr2:g.178630244T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36574A>C	ENSP00000343764.6:p.Lys12192Gln
ENST00000342175.11:c.17659A>C	ENSP00000340554.6:p.Lys5887Gln
ENST00000359218.10:c.17458A>C	ENSP00000352154.5:p.Lys5820Gln
ENST00000342175.10:c.17659A>C	ENSP00000340554.6:p.Lys5887Gln
ENST00000342992.10:c.36574A>C	ENSP00000343764.6:p.Lys12192Gln
ENST00000359218.9:c.17458A>C	ENSP00000352154.5:p.Lys5820Gln
ENST00000460472.6:c.17083A>C	ENSP00000434586.1:p.Lys5695Gln
ENST00000589042.5:c.44278A>C MANE Select	ENSP00000467141.1:p.Lys14760Gln
ENST00000591111.5:c.39355A>C	ENSP00000465570.1:p.Lys13119Gln
ENST00000615779.4:c.39355A>C	ENSP00000483597.1:p.Lys13119Gln
NM_001256850.1:c.39355A>C	NP_001243779.1:p.Lys13119Gln
NM_001267550.2:c.44278A>C MANE Select	NP_001254479.2:p.Lys14760Gln
NM_003319.4:c.17083A>C	NP_003310.4:p.Lys5695Gln
NM_133378.4:c.36574A>C	NP_596869.4:p.Lys12192Gln
NM_133432.3:c.17458A>C	NP_597676.3:p.Lys5820Gln
NM_133437.4:c.17659A>C	NP_597681.4:p.Lys5887Gln
XM_011511729.1:c.43375A>C	XP_011510031.1:p.Lys14459Gln
XM_011511730.1:c.17269A>C	XP_011510032.1:p.Lys5757Gln
XM_011511731.1:c.17128A>C	XP_011510033.1:p.Lys5710Gln
XM_017004819.1:c.43171A>C	XP_016860308.1:p.Lys14391Gln
XM_017004820.1:c.38569A>C	XP_016860309.1:p.Lys12857Gln
XM_017004821.1:c.38566A>C	XP_016860310.1:p.Lys12856Gln
XM_017004822.1:c.35608A>C	XP_016860311.1:p.Lys11870Gln
XM_017004823.1:c.17224A>C	XP_016860312.1:p.Lys5742Gln
XM_024453094.1:c.38719A>C	XP_024308862.1:p.Lys12907Gln
XM_024453095.1:c.38716A>C	XP_024308863.1:p.Lys12906Gln
XM_024453096.1:c.38149A>C	XP_024308864.1:p.Lys12717Gln
XM_024453097.1:c.35491A>C	XP_024308865.1:p.Lys11831Gln
XM_024453098.1:c.35410A>C	XP_024308866.1:p.Lys11804Gln
XM_024453099.1:c.17173A>C	XP_024308867.1:p.Lys5725Gln
XM_024453100.1:c.7027A>C	XP_024308868.1:p.Lys2343Gln