Canonical Allele Identifier: CA349645112

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494970T>A (hg19) ; chr2:g.178630243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630243T>A , CM000664.2:g.178630243T>A	GRCh38
NC_000002.11:g.179494970T>A , CM000664.1:g.179494970T>A	GRCh37
NC_000002.10:g.179203215T>A	NCBI36
NG_011618.3:g.205560A>T , LRG_391:g.205560A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36575A>T	ENSP00000343764.6:p.Lys12192Met
ENST00000342175.11:c.17660A>T	ENSP00000340554.6:p.Lys5887Met
ENST00000359218.10:c.17459A>T	ENSP00000352154.5:p.Lys5820Met
ENST00000342175.10:c.17660A>T	ENSP00000340554.6:p.Lys5887Met
ENST00000342992.10:c.36575A>T	ENSP00000343764.6:p.Lys12192Met
ENST00000359218.9:c.17459A>T	ENSP00000352154.5:p.Lys5820Met
ENST00000460472.6:c.17084A>T	ENSP00000434586.1:p.Lys5695Met
ENST00000589042.5:c.44279A>T MANE Select	ENSP00000467141.1:p.Lys14760Met
ENST00000591111.5:c.39356A>T	ENSP00000465570.1:p.Lys13119Met
ENST00000615779.4:c.39356A>T	ENSP00000483597.1:p.Lys13119Met
NM_001256850.1:c.39356A>T	NP_001243779.1:p.Lys13119Met
NM_001267550.2:c.44279A>T MANE Select	NP_001254479.2:p.Lys14760Met
NM_003319.4:c.17084A>T	NP_003310.4:p.Lys5695Met
NM_133378.4:c.36575A>T	NP_596869.4:p.Lys12192Met
NM_133432.3:c.17459A>T	NP_597676.3:p.Lys5820Met
NM_133437.4:c.17660A>T	NP_597681.4:p.Lys5887Met
XM_011511729.1:c.43376A>T	XP_011510031.1:p.Lys14459Met
XM_011511730.1:c.17270A>T	XP_011510032.1:p.Lys5757Met
XM_011511731.1:c.17129A>T	XP_011510033.1:p.Lys5710Met
XM_017004819.1:c.43172A>T	XP_016860308.1:p.Lys14391Met
XM_017004820.1:c.38570A>T	XP_016860309.1:p.Lys12857Met
XM_017004821.1:c.38567A>T	XP_016860310.1:p.Lys12856Met
XM_017004822.1:c.35609A>T	XP_016860311.1:p.Lys11870Met
XM_017004823.1:c.17225A>T	XP_016860312.1:p.Lys5742Met
XM_024453094.1:c.38720A>T	XP_024308862.1:p.Lys12907Met
XM_024453095.1:c.38717A>T	XP_024308863.1:p.Lys12906Met
XM_024453096.1:c.38150A>T	XP_024308864.1:p.Lys12717Met
XM_024453097.1:c.35492A>T	XP_024308865.1:p.Lys11831Met
XM_024453098.1:c.35411A>T	XP_024308866.1:p.Lys11804Met
XM_024453099.1:c.17174A>T	XP_024308867.1:p.Lys5725Met
XM_024453100.1:c.7028A>T	XP_024308868.1:p.Lys2343Met