Canonical Allele Identifier: CA349646358

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495658T>G (hg19) ; chr2:g.178630931T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630931T>G , CM000664.2:g.178630931T>G	GRCh38
NC_000002.11:g.179495658T>G , CM000664.1:g.179495658T>G	GRCh37
NC_000002.10:g.179203903T>G	NCBI36
NG_011618.3:g.204872A>C , LRG_391:g.204872A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36323A>C	ENSP00000343764.6:p.Lys12108Thr
ENST00000342175.11:c.17408A>C	ENSP00000340554.6:p.Lys5803Thr
ENST00000359218.10:c.17207A>C	ENSP00000352154.5:p.Lys5736Thr
ENST00000342175.10:c.17408A>C	ENSP00000340554.6:p.Lys5803Thr
ENST00000342992.10:c.36323A>C	ENSP00000343764.6:p.Lys12108Thr
ENST00000359218.9:c.17207A>C	ENSP00000352154.5:p.Lys5736Thr
ENST00000460472.6:c.16832A>C	ENSP00000434586.1:p.Lys5611Thr
ENST00000589042.5:c.44027A>C MANE Select	ENSP00000467141.1:p.Lys14676Thr
ENST00000591111.5:c.39104A>C	ENSP00000465570.1:p.Lys13035Thr
ENST00000615779.4:c.39104A>C	ENSP00000483597.1:p.Lys13035Thr
NM_001256850.1:c.39104A>C	NP_001243779.1:p.Lys13035Thr
NM_001267550.2:c.44027A>C MANE Select	NP_001254479.2:p.Lys14676Thr
NM_003319.4:c.16832A>C	NP_003310.4:p.Lys5611Thr
NM_133378.4:c.36323A>C	NP_596869.4:p.Lys12108Thr
NM_133432.3:c.17207A>C	NP_597676.3:p.Lys5736Thr
NM_133437.4:c.17408A>C	NP_597681.4:p.Lys5803Thr
XM_011511729.1:c.43124A>C	XP_011510031.1:p.Lys14375Thr
XM_011511730.1:c.17018A>C	XP_011510032.1:p.Lys5673Thr
XM_011511731.1:c.16877A>C	XP_011510033.1:p.Lys5626Thr
XM_017004819.1:c.42920A>C	XP_016860308.1:p.Lys14307Thr
XM_017004820.1:c.38318A>C	XP_016860309.1:p.Lys12773Thr
XM_017004821.1:c.38315A>C	XP_016860310.1:p.Lys12772Thr
XM_017004822.1:c.35357A>C	XP_016860311.1:p.Lys11786Thr
XM_017004823.1:c.16973A>C	XP_016860312.1:p.Lys5658Thr
XM_024453094.1:c.38468A>C	XP_024308862.1:p.Lys12823Thr
XM_024453095.1:c.38465A>C	XP_024308863.1:p.Lys12822Thr
XM_024453096.1:c.37898A>C	XP_024308864.1:p.Lys12633Thr
XM_024453097.1:c.35240A>C	XP_024308865.1:p.Lys11747Thr
XM_024453098.1:c.35159A>C	XP_024308866.1:p.Lys11720Thr
XM_024453099.1:c.16922A>C	XP_024308867.1:p.Lys5641Thr
XM_024453100.1:c.6776A>C	XP_024308868.1:p.Lys2259Thr