Canonical Allele Identifier: CA430113374

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179494972A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630245A>G , CM000664.2:g.178630245A>G	GRCh38
NC_000002.11:g.179494972A>G , CM000664.1:g.179494972A>G	GRCh37
NC_000002.10:g.179203217A>G	NCBI36
NG_011618.3:g.205558T>C , LRG_391:g.205558T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36573T>C	ENSP00000343764.6:p.Val12191=
ENST00000342175.11:c.17658T>C	ENSP00000340554.6:p.Val5886=
ENST00000359218.10:c.17457T>C	ENSP00000352154.5:p.Val5819=
ENST00000342175.10:c.17658T>C	ENSP00000340554.6:p.Val5886=
ENST00000342992.10:c.36573T>C	ENSP00000343764.6:p.Val12191=
ENST00000359218.9:c.17457T>C	ENSP00000352154.5:p.Val5819=
ENST00000460472.6:c.17082T>C	ENSP00000434586.1:p.Val5694=
ENST00000589042.5:c.44277T>C MANE Select	ENSP00000467141.1:p.Val14759=
ENST00000591111.5:c.39354T>C	ENSP00000465570.1:p.Val13118=
ENST00000615779.4:c.39354T>C	ENSP00000483597.1:p.Val13118=
NM_001256850.1:c.39354T>C	NP_001243779.1:p.Val13118=
NM_001267550.2:c.44277T>C MANE Select	NP_001254479.2:p.Val14759=
NM_003319.4:c.17082T>C	NP_003310.4:p.Val5694=
NM_133378.4:c.36573T>C	NP_596869.4:p.Val12191=
NM_133432.3:c.17457T>C	NP_597676.3:p.Val5819=
NM_133437.4:c.17658T>C	NP_597681.4:p.Val5886=
XM_011511729.1:c.43374T>C	XP_011510031.1:p.Val14458=
XM_011511730.1:c.17268T>C	XP_011510032.1:p.Val5756=
XM_011511731.1:c.17127T>C	XP_011510033.1:p.Val5709=
XM_017004819.1:c.43170T>C	XP_016860308.1:p.Val14390=
XM_017004820.1:c.38568T>C	XP_016860309.1:p.Val12856=
XM_017004821.1:c.38565T>C	XP_016860310.1:p.Val12855=
XM_017004822.1:c.35607T>C	XP_016860311.1:p.Val11869=
XM_017004823.1:c.17223T>C	XP_016860312.1:p.Val5741=
XM_024453094.1:c.38718T>C	XP_024308862.1:p.Val12906=
XM_024453095.1:c.38715T>C	XP_024308863.1:p.Val12905=
XM_024453096.1:c.38148T>C	XP_024308864.1:p.Val12716=
XM_024453097.1:c.35490T>C	XP_024308865.1:p.Val11830=
XM_024453098.1:c.35409T>C	XP_024308866.1:p.Val11803=
XM_024453099.1:c.17172T>C	XP_024308867.1:p.Val5724=
XM_024453100.1:c.7026T>C	XP_024308868.1:p.Val2342=