Canonical Allele Identifier: CA349645540

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495040G>T (hg19) ; chr2:g.178630313G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630313G>T , CM000664.2:g.178630313G>T	GRCh38
NC_000002.11:g.179495040G>T , CM000664.1:g.179495040G>T	GRCh37
NC_000002.10:g.179203285G>T	NCBI36
NG_011618.3:g.205490C>A , LRG_391:g.205490C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36505C>A	ENSP00000343764.6:p.Arg12169Ser
ENST00000342175.11:c.17590C>A	ENSP00000340554.6:p.Arg5864Ser
ENST00000359218.10:c.17389C>A	ENSP00000352154.5:p.Arg5797Ser
ENST00000342175.10:c.17590C>A	ENSP00000340554.6:p.Arg5864Ser
ENST00000342992.10:c.36505C>A	ENSP00000343764.6:p.Arg12169Ser
ENST00000359218.9:c.17389C>A	ENSP00000352154.5:p.Arg5797Ser
ENST00000460472.6:c.17014C>A	ENSP00000434586.1:p.Arg5672Ser
ENST00000589042.5:c.44209C>A MANE Select	ENSP00000467141.1:p.Arg14737Ser
ENST00000591111.5:c.39286C>A	ENSP00000465570.1:p.Arg13096Ser
ENST00000615779.4:c.39286C>A	ENSP00000483597.1:p.Arg13096Ser
NM_001256850.1:c.39286C>A	NP_001243779.1:p.Arg13096Ser
NM_001267550.2:c.44209C>A MANE Select	NP_001254479.2:p.Arg14737Ser
NM_003319.4:c.17014C>A	NP_003310.4:p.Arg5672Ser
NM_133378.4:c.36505C>A	NP_596869.4:p.Arg12169Ser
NM_133432.3:c.17389C>A	NP_597676.3:p.Arg5797Ser
NM_133437.4:c.17590C>A	NP_597681.4:p.Arg5864Ser
XM_011511729.1:c.43306C>A	XP_011510031.1:p.Arg14436Ser
XM_011511730.1:c.17200C>A	XP_011510032.1:p.Arg5734Ser
XM_011511731.1:c.17059C>A	XP_011510033.1:p.Arg5687Ser
XM_017004819.1:c.43102C>A	XP_016860308.1:p.Arg14368Ser
XM_017004820.1:c.38500C>A	XP_016860309.1:p.Arg12834Ser
XM_017004821.1:c.38497C>A	XP_016860310.1:p.Arg12833Ser
XM_017004822.1:c.35539C>A	XP_016860311.1:p.Arg11847Ser
XM_017004823.1:c.17155C>A	XP_016860312.1:p.Arg5719Ser
XM_024453094.1:c.38650C>A	XP_024308862.1:p.Arg12884Ser
XM_024453095.1:c.38647C>A	XP_024308863.1:p.Arg12883Ser
XM_024453096.1:c.38080C>A	XP_024308864.1:p.Arg12694Ser
XM_024453097.1:c.35422C>A	XP_024308865.1:p.Arg11808Ser
XM_024453098.1:c.35341C>A	XP_024308866.1:p.Arg11781Ser
XM_024453099.1:c.17104C>A	XP_024308867.1:p.Arg5702Ser
XM_024453100.1:c.6958C>A	XP_024308868.1:p.Arg2320Ser